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Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

The CD10 immunostain was positive.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The patient was transferred to the recovery room with complete stability.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

The output's weight was 2400g which signify the loss of 630g.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

He lost 930g relative to the birth's weight.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

Urine analysis and culture were performed several times that was negative for infection.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

He was discharged after 32 days with output's weight 3250g.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The osmotic gap was 45.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor.

We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases. Mild elevation of liver enzymes was found at her regular medical check-up. Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes. Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor. The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor. She underwent a pylorus-preserving whipple resection with lymph node dissection. The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.

EN108798

There was no lymphadenopathy and the nervous system examination was normal.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

In mutated SERPINC1 protein a new N-linked glycosylation site is formed, however, it is unclear if the glycosylation at 219-221 site is possible.

We observed a 29 y.o. female proband with the episode of venous thrombosis at the age of 18 and family history of thrombosis. The antithrombin level in our patient was low, 44-48% (AT deficiency type I). A new genetic variant c.662G > C (p.W221S) in the SERPINC1 gene was detected in proband and affected father but was absent in healthy sister. We used in silico tools to evaluate the possible impact of p.W221S variant on protein structure and function. In mutated SERPINC1 protein a new N-linked glycosylation site is formed, however, it is unclear if the glycosylation at 219-221 site is possible.

EN101318

The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

On examination, patient was afebrile and appeared pale.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

He had developed no symptoms during his hospitalization.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

The antithrombin level in our patient was low, 44-48% (AT deficiency type I).

We observed a 29 y.o. female proband with the episode of venous thrombosis at the age of 18 and family history of thrombosis. The antithrombin level in our patient was low, 44-48% (AT deficiency type I). A new genetic variant c.662G > C (p.W221S) in the SERPINC1 gene was detected in proband and affected father but was absent in healthy sister. We used in silico tools to evaluate the possible impact of p.W221S variant on protein structure and function. In mutated SERPINC1 protein a new N-linked glycosylation site is formed, however, it is unclear if the glycosylation at 219-221 site is possible.

EN101318

The patient was a 35-year old female who presented with urinary frequency for 2 months.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry).

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor.

We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases. Mild elevation of liver enzymes was found at her regular medical check-up. Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes. Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor. The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor. She underwent a pylorus-preserving whipple resection with lymph node dissection. The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.

EN108798

The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

Fundus examination showed bilateral optic atrophy.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Meconium-stained amniotic fluid was noted.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Mild elevation of liver enzymes was found at her regular medical check-up.

We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases. Mild elevation of liver enzymes was found at her regular medical check-up. Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes. Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor. The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor. She underwent a pylorus-preserving whipple resection with lymph node dissection. The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.

EN108798

Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes.

We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases. Mild elevation of liver enzymes was found at her regular medical check-up. Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes. Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor. The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor. She underwent a pylorus-preserving whipple resection with lymph node dissection. The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.

EN108798

Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

In the submucosa, there were numerous Brunner glands.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

We suggested that it was a side effect of imatinib so its administration was temporary interrupted.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

The patient had no other known pathology that could be held responsible for retina edema.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

On the 11 th day of life, he was transferred to the pediatric intensive care unit.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

He had clinical signs of severe dehydration without fever or vomiting.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The patient was put on an anti-edema therapy (mannitol, dexamethasone).

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.

We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases. Mild elevation of liver enzymes was found at her regular medical check-up. Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes. Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor. The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor. She underwent a pylorus-preserving whipple resection with lymph node dissection. The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.

EN108798

Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

There was no leukocytosis, and the serum level of C-reactive protein was normal.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

Skin examination was normal and had no café au lait spot.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

Back home, he received exclusive maternal breastfeeding.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

She underwent a pylorus-preserving whipple resection with lymph node dissection.

We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases. Mild elevation of liver enzymes was found at her regular medical check-up. Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes. Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor. The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor. She underwent a pylorus-preserving whipple resection with lymph node dissection. The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.

EN108798

We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases.

We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases. Mild elevation of liver enzymes was found at her regular medical check-up. Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes. Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor. The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor. She underwent a pylorus-preserving whipple resection with lymph node dissection. The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.

EN108798

She had no history of neurofibromatosis in her family.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

Cytological evaluation of cerebrospinal fluid (CSF) was also negative.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Allogenic stem cell transplantation was not feasible.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Her past medical history showed a nonsmoking history and no significant family history.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

We report a case of a male near-term neonate with gestational age of 35 weeks.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The baby died, after 97 days of life, of septic shock and multiple organ failure.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

We find the existence of numerous hemorrhagic suffusions.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

However, few months later, the patient presented in the emergency room with a headache and severe vomiting.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

The patient was diagnosed with CML.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

The histopathology slides show a well-defined mass composed of bland looking spindle cells.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

She was treated as urinary tract infection, but there was no improvement in her symptoms.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

She was treated with 24 Gy of whole-brain radiation therapy.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Other laboratory data were also insignificant.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

She was not a case of von Recklinghausen disease.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

He was born by means of normal vaginal delivery with a normal extra-uterine adaptation.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The baby had normal physical examination at birth aside transitory respiratory distress.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The analysis of the BCR-ABL shows 94% in the peripheral blood.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The electron microscopic examination confirmed the diagnosis.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

We used in silico tools to evaluate the possible impact of p.W221S variant on protein structure and function.

We observed a 29 y.o. female proband with the episode of venous thrombosis at the age of 18 and family history of thrombosis. The antithrombin level in our patient was low, 44-48% (AT deficiency type I). A new genetic variant c.662G > C (p.W221S) in the SERPINC1 gene was detected in proband and affected father but was absent in healthy sister. We used in silico tools to evaluate the possible impact of p.W221S variant on protein structure and function. In mutated SERPINC1 protein a new N-linked glycosylation site is formed, however, it is unclear if the glycosylation at 219-221 site is possible.

EN101318

She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

The physical examination was unremarkable.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

The pupil was sluggish to react to light.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

He was the third born child to a 27-year-old mother with no significant past history.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

A new genetic variant c.662G > C (p.W221S) in the SERPINC1 gene was detected in proband and affected father but was absent in healthy sister.

We observed a 29 y.o. female proband with the episode of venous thrombosis at the age of 18 and family history of thrombosis. The antithrombin level in our patient was low, 44-48% (AT deficiency type I). A new genetic variant c.662G > C (p.W221S) in the SERPINC1 gene was detected in proband and affected father but was absent in healthy sister. We used in silico tools to evaluate the possible impact of p.W221S variant on protein structure and function. In mutated SERPINC1 protein a new N-linked glycosylation site is formed, however, it is unclear if the glycosylation at 219-221 site is possible.

EN101318

To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

His birth weight was 3030g (75 th Percentile).

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone).

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376

Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia.

A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue. The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly. The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³. PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³. The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts. The analysis of the BCR-ABL shows 94% in the peripheral blood. The patient was diagnosed with CML. She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day. Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months. The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days. On examination, patient was afebrile and appeared pale. Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute. There was no lymphadenopathy and the nervous system examination was normal. Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes. The pupil was sluggish to react to light. Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina. She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found. A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia. Cytological evaluation of cerebrospinal fluid (CSF) was also negative. The patient had no other known pathology that could be held responsible for retina edema. We suggested that it was a side effect of imatinib so its administration was temporary interrupted. The patient was put on an anti-edema therapy (mannitol, dexamethasone). However, few months later, the patient presented in the emergency room with a headache and severe vomiting. She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures. Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia. CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes. Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml. Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration. A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase. Fundus examination showed bilateral optic atrophy. The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry). The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone). The imatinib was replaced by dasatinib at the dose of 100 mg per day. She was treated with 24 Gy of whole-brain radiation therapy. Allogenic stem cell transplantation was not feasible. We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.

EN100543

In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder.

The patient was a 35-year old female who presented with urinary frequency for 2 months. Her past medical history showed a nonsmoking history and no significant family history. The physical examination was unremarkable. She was treated as urinary tract infection, but there was no improvement in her symptoms. Urine analysis and culture were performed several times that was negative for infection. Other laboratory data were also insignificant. Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm. In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder. To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018. Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy. Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers. Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation. The patient was transferred to the recovery room with complete stability. The histopathology slides show a well-defined mass composed of bland looking spindle cells. Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative. Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed. Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal. Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis. She had no history of neurofibromatosis in her family. Skin examination was normal and had no café au lait spot. She was not a case of von Recklinghausen disease.

EN100506

The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45.

We report a case of a male near-term neonate with gestational age of 35 weeks. He was the third born child to a 27-year-old mother with no significant past history. He was derived from a third degree consanguineous marriage. He was born by means of normal vaginal delivery with a normal extra-uterine adaptation. Meconium-stained amniotic fluid was noted. His birth weight was 3030g (75 th Percentile). The baby had normal physical examination at birth aside transitory respiratory distress. He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours. He had developed no symptoms during his hospitalization. The output's weight was 2400g which signify the loss of 630g. Back home, he received exclusive maternal breastfeeding. On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context. He had clinical signs of severe dehydration without fever or vomiting. He lost 930g relative to the birth's weight. The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal. The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L. The osmotic gap was 45. There was no leukocytosis, and the serum level of C-reactive protein was normal. The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology. After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared. The chest radiograph showed "bat wings" pattern and the cardiothoracic index was 0, 45. The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations. On the 11 th day of life, he was transferred to the pediatric intensive care unit. He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter. The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis. Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day. He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula. He was discharged after 32 days with output's weight 3250g. The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities. The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern. In the submucosa, there were numerous Brunner glands. We find the existence of numerous hemorrhagic suffusions. The CD10 immunostain was positive. Thus, a diagnosis hypothesis of MVID was raised. The electron microscopic examination confirmed the diagnosis. Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene. The baby died, after 97 days of life, of septic shock and multiple organ failure.

EN100376