OpenMed/multicare-articles huggingface dataset:
Unusual Manifestation of Ulcerative Colitis
Authors: Amna Basheer M Ahmed, Badr M Rasheed Alsaleem
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

The relationship of inflammatory bowel disease (IBD) and chronic recurrent multifocal osteomyelitis (CRMO) is understood as extraintestinal rheumatic manifestations. CRMO is a chronic, relapsing, inflammatory, noninfectious disorder of the skeletal system of unknown origin. The disease course is not always recurrent. The association of CRMO and ulcerative colitis (UC) is very rarely reported. We report a case of a 10-year-old Saudi female who was diagnosed with CRMO, when she developed fever in association with left foot pain, and ulcerative colitis was confirmed endoscopically and histologically based on a previous settled diarrheal illness and severe iron deficiency anemia which required blood. Both conditions responded well to IBD therapy. To the best of our knowledge, this is the first reported case of chronic, multifocal osteomyelitis associated with pediatric UC in Saudi Arabia. This report supports the use of IBD therapy in treating CRMO.
Early focal segmental glomerulosclerosis as a cause of renal allograft primary nonfunction
Authors: Emma J Griffin, Peter C Thomson, David Kipgen, Marc Clancy, Conal Daly
Journal: Case Rep Transplant (2013)

Background. Primary focal segmental glomerulosclerosis (FSGS) is one of the commonest causes of glomerular disease and if left untreated will often progress to established renal failure. In many cases the best treatment option is renal transplantation; however primary FSGS may rapidly recur in renal allografts and may contribute to delayed graft function. We present a case of primary nonfunction in a renal allograft due to biopsy-proven FSGS. Case Report. A 32-year-old man presented with serum albumin of 22 g/L, proteinuria quantified at 12 g/L, and marked peripheral oedema. Renal biopsy demonstrated tip-variant FSGS. Despite treatment, the patient developed progressive renal dysfunction and was commenced on haemodialysis. Cadaveric renal transplantation was undertaken; however this was complicated by primary nonfunction. Renal biopsies failed to demonstrate evidence of acute rejection but did demonstrate clear evidence of FSGS. The patient was treated to no avail. Discussion. Primary renal allograft nonfunction following transplantation is often due to acute kidney injury or acute rejection. Recurrent FSGS is recognised as a phenomenon that drives allograft dysfunction but is not traditionally associated with primary nonfunction. This case highlights FSGS as a potentially aggressive process that, once active in the allograft, may prove refractory to targeted treatment. Preemptive therapies in patients deemed to be at high risk of recurrent disease may be appropriate and should be considered.
Acute Lymphoblastic Leukemia with Infective Endocarditis Presented with Unusual Intracardiac Mass
Authors: Ali Sadeghpour Tabaei, Leili Koochakzadeh, Mohammadrafie Khorgami, Sepehr Sadeghpour Tabaei
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Acute lymphoblastic leukemia (ALL) is a systemic disease that is presented with different symptoms and signs. Cardiac manifestation is rare in ALL, but it is very important and needs appropriate management. It usually presents as leukemic myocardial infiltration and in the presence of cardiac mass comprehensive evaluation for other etiologies is mandatory. We reported on a 6-year-old boy in remission phase of ALL and large cardiac mass in the right atrium with obscure early symptoms and signs, in whom infective endocarditis (IE) was diagnosed and appropriate medical treatment was performed. Because the mass was sustained, surgical resection was considered for the patient.
Case series: Diquat poisoning with acute kidney failure, myocardial damage, and rhabdomyolysis
Authors: Guangcai Yu, Jieru Wang, Tianzi Jian, Longke Shi, Liwen Zhao, Yaqian Li, Yikai Gao, Baotian Kan, Xiangdong Jian
Journal: Front Public Health (2022)
Keywords: acute kidney injury, diquat poisoning, hemopurification, myohemoglobin, rhabdomyolysis
MeSH terms: Acute Kidney Injury / chemically induced, Anuria, Rhabdomyolysis / chemically induced, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Creatine Kinase, Creatinine, Diquat, Female, Humans, Male, Urea, Diquat, Creatinine, Creatine Kinase, Urea

Diquat is a herbicide that can have deleterious effects on the kidneys, liver, heart, lungs, and central nervous system on ingestion. Diquat poisoning-associated rhabdomyolysis has rarely been reported. We describe two cases of diquat poisoning with acute renal failure, myocardial damage, and rhabdomyolysis. Case 1: A 17-year-old man experienced anuria after ingesting ~200 mL of diquat 16 h prior. On admission, his creatinine (400 μmol/L), urea (11.7 mmol/L), creatine kinase (2,534 IU/L), and myohemoglobin (4,425 ng/mL) concentrations were elevated. Case 2: An 18-year-old woman who ingested ~200 mL of diquat 5.5 h prior to admission had normal creatinine, urea, and creatine kinase concentrations. Eleven hours after ingestion, she developed anuria with elevated creatinine (169 μmol/L) concentration; her creatine kinase (13,617 IU/L) and myohemoglobin (>3,811 ng/mL) concentrations were remarkably elevated 24 h after ingestion. Both patients also had elevated aminotransferase and myocardial enzyme concentrations. After undergoing hemoperfusion and hemofiltration, blood diquat concentrations in cases 1 and 2 on admission (16/6 h after ingestion), after hemoperfusion (20/11 h after ingestion), and after 8 h of hemofiltration/8 h of hemofiltration and 2 h of hemoperfusion (29/21 h after ingestion) were 4.9/9.1, 3.4/5.4, and 1.5/1.2 μg/mL, respectively. Severe diquat poisoning can cause acute kidney failure and rhabdomyolysis. Rhabdomyolysis may induce myocardial injury, aggravating kidney damage, and also increase transaminase concentration. Hemoperfusion and hemofiltration could be effective treatments for eliminating diquat in the blood.
Internal jugular vein aneurysm: A case report
Authors: Abdulrahman M Nasiri, Nora Rayes, Khaled A Bakarman
Journal: Medicine (Baltimore) (2018)
MeSH terms: Aneurysm / diagnosis, Aneurysm / surgery, Jugular Veins / diagnostic imaging, Jugular Veins / surgery, Case Reports, Diagnosis, Differential, Female, Humans, Middle Aged

Introduction:
Aneurysm is a localized dilatation of an artery of at least 1.5 times the normal diameter that occurs when part of an artery wall weakens or is injured, allowing it to widen abnormally. In practice, an arterial aneurysm is more common in comparison to a venous aneurysm. Because of the rare incidence of venous aneurysms, treatment guidelines are not clearly established and thus treatment strategies vary. This is a case of a 57-year-old Saudi woman, with no significant medical history, who presented to Prince Sultan Military Hospital complaining of swelling in the right side of the neck that started 3 years ago. The patient reported that the swelling enlarged with coughing and straining, but there was no pain, change in skin color, dysphagia, change in voice, neurological defect, shortness of breath, history of any trauma to the neck, surgical intervention, or any lump. The condition can be diagnosed via ultrasonography, computed tomography, or magnetic resonance imaging.
Conclusion:
Despite the lack of guidelines, intervention was necessary because the patient was anxious regarding the increase in the size of the swelling, which she felt had a negative psychosocial impact. Moreover, because the sizable venous aneurysm harbored a mural thrombus that increased the risk of embolization and pulmonary embolism, surgery was offered.Indication for surgery includes pain, swelling, and cosmetic concerns. Conservative management of the condition is described in the literature.
Musculoskeletal Echinococcus infection as a rare first presentation of hydatid disease: case report
Authors: A Marzouki, A Naam, S Abdulrazak, B Soumaré, K Lahrach, F Boutayeb
Journal: Patient Saf Surg (2017)
Keywords: albendazole, elbow, hydatidosis, primary, subcutaneous
MeSH terms: Case Reports

Background:
Hydatid disease (HD) is a cosmopolitan parasitosis caused by Echinococcus granulosus that can potentially affect any part of the human body. Liver and lungs are the most frequent localizations. Primary musculoskeletal hydatidosis are seldom reported in literature and their incidence is unknown.
Case presentation:
We deem interesting to report a case of a primary hydatid cyst in a 25-year-old patient who presented with a painful swelling of the right elbow. Meticulous examination and preoperative imaging did not reveal other localizations. Patient was admitted for surgery where total excision of cyst was done without intraoperative spillage and a cutaneous skin flap was subsequently required to make up for soft tissue loss.
Conclusion:
Primary hydatid cysts are sometimes difficult to diagnose preoperatively. It should be considered in the differential diagnosis of subcutaneous cystic lesions in regions where hydatid cysts are endemic. Currently, surgical excision is deemed first choice treatment for solitary cysts and antihelminthic treatment should be initiated preoperatively in the case of risk of rupture or in the event of complications.
A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome
Authors: Pamela Rodríguez, Karla Asturias
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Cornelia de Lange syndrome (CdLS) is a rare syndromic genetic disorder characterized by multiple congenital anomalies with upper limb reduction defects, along with cardiac, gastrointestinal, and genitourinary defects. It is caused by genetic variations in the chromatin regulator genes, most commonly, the cohesin complex. Even though molecular genetic testing is highly recommended to confirm the diagnosis, high costs and unavailability in some settings are significant setbacks, and clinical criteria could be used. The typical craniofacial features include generalized hirsutism, synophrys, microbrachycephaly, highly arched eyebrows, and long eyelashes, along with height and weight below the 5th percentile. In this paper, we present a case of a 16-day-old male infant in whom a clinical diagnosis of classical CdLS was made.
Isolated soft tissue cysticercosis involving the trunk in children: report of 4 cases
Authors: Shalini Sinha, Abhishek Tiwari, Yogesh Kumar Sarin, Nita Khurana
Journal: APSP J Case Rep (2013)
Keywords: cysticercosis, parasitic cyst, taenia solium
MeSH terms: Case Reports

Isolated soft tissue cysticercosis of the trunk in the absence of concurrent central nervous system involvement is uncommon and may be difficult to diagnose. We report 4 such cases in the pediatric age group. Preoperative diagnosis of soft tissue cysticercosis was considered only in 1 patient, the rest were diagnosed only after biopsy. Complete excision (without rupture) was done. All of them underwent a CT scan head along with ophthalmic examination to rule out the more common sites of occurrence of cysticercosis. No further treatment was undertaken as the evaluation was negative. In endemic areas like ours we must suspect this entity not only in the limb muscles, but also in the subcutaneous tissues of the trunk. If diagnosed accurately, it can be treated medically, eliminating the need for surgery.
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
Authors: Ghada Abdel-Salam, Michaela Thoenes, Hanan H Afifi, Friederike Körber, Daniel Swan, Hanno Jörn Bolz
Journal: Orphanet J Rare Dis (2014)
MeSH terms: Epilepsy / genetics, Microcephaly / genetics, Case Reports, Research Support, Non-U.S. Gov't, Humans, Infant, Mutation, Oxidoreductases / genetics, Retinal Degeneration / genetics, Tumor Suppressor Proteins / genetics, WW Domain-Containing Oxidoreductase, Tumor Suppressor Proteins, Oxidoreductases, WW Domain-Containing Oxidoreductase, WWOX protein, human

Background:
WWOX, encoding WW domain-containing oxidoreductase, spans FRA16D, the second most common chromosomal fragile site frequently altered in cancers. It is therefore considered a tumor suppressor gene, but its direct implication in cancerogenesis remains controversial.
Methods and results:
By whole-exome sequencing, we identified a homozygous WWOX nonsense mutation, p.Arg54*, in a girl from a consanguineous family with a severe syndrome of growth retardation, microcephaly, epileptic seizures, retinopathy and early death, a phenotype highly similar to the abormalities reported in lde/lde rats with a spontaneous functional null mutation of Wwox. As in rats, no tumors were observed in the patient or heterozygous mutation carriers.
Conclusions:
Our finding, a homozygous loss-of-function germline mutation in WWOX in a patient with a lethal autosomal recessive syndrome, supports an alternative role of WWOX and indicates its importance for human viability.
A new case of primary signet-ring cell carcinoma of the cervix with prominent endometrial and myometrial involvement: Immunohistochemical and molecular studies and review of the literature
Authors: Giovanna Giordano, Silvia Pizzi, Roberto Berretta, Tiziana D'Adda
Journal: World J Surg Oncol (2012)
MeSH terms: Carcinoma, Signet Ring Cell / pathology, Endometrial Neoplasms / pathology, Myometrium / pathology, Uterine Cervical Neoplasms / pathology, Case Reports, Review, Diagnosis, Differential, Female, Humans, Immunohistochemistry, Middle Aged

Background:
As a rule, endocervical tumours with signet-ring cell are classed as metastatic extra-genital neoplasms. In a patient aged 45 years, we describe primary cervical signet-ring cell carcinoma (PCSRCC) characterized by prominent endometrial and myometrial involvement, simulating primary endometrial adenocarcinoma with cervical extension. In addition, a review was made of the literature to identify the clinical and pathological features of this rare malignancy.
Case presentation:
A 45-year-old woman was referred to our Gynaecology Department due to persistent abnormal vaginal bleeding. Transvaginal ultrasonography showed slight endometrial irregularities in the whole uterine cavity suggestive of endometrial neoplasms. Pelvic magnetic resonance imaging revealed diffuse enlargement of the cervix, which had been replaced by a mass. Induration extended to the parametria and sigmoid colon fat.Histological examination of endometrial curettage and a cervical biopsy revealed a neoplasm characterized by neoplastic signet-ring cells and trabecular structures. Immunohistochemical analysis and molecular studies showed certain findings consistent with a cervical neoplasm, such as positivity to CEA, keratin 7, Ca-125 and p16 and the presence of HPV (Human Papilloma Virus) DNA 18.On examination of the hysterectomy with bilateral salpingo-oophorectomy and pelvic lymphadenectomy, the lesion replacing the cervix, endometrium and myometrium, revealed the same immunohistochemical findings observed on endometrial curettage and cervical biopsy specimens. Metastases were found in an ovarian cystic lesion and the lymph nodes.
Conclusion:
With this report the authors have demonstrated that the spread of cervical adenocarcinoma to the uterine corpus, although rare, may be observed, and that in this instance immunohistochemical and molecular studies can provide sufficient information for accurate diagnosis even on small biopsy specimens.
Brain and Cardiac Concomitant Localization of the Hydatid Cyst
Authors: Amal El Ouarradi, Sara Oualim, Ilham Bensahi, Meriem Elkouhen, Imane Abouloiafa, Mohamed Sabry
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Hydatid cyst is a parasitic infestation that is usually observed in the liver and lungs. The localization in the brain and the heart is exceptional. Here, we report a 11-year-old boy who was diagnosed to have two large hydatid cysts of the heart and brain. We discuss this unusual presentation of hydatid cyst and its management.
A Rare Case of Acute Myocardial Infarction due to Coronary Artery Dissection and Heparin-Induced Thrombocytopenia
Authors: Michael G Fradley, Douglas E Drachman
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Although both coronary artery dissection and heparin-induced thrombocytopenia may provoke myocardial infarction, it is extremely rare for both conditions to develop simultaneously in a single patient. We report a case of a 69-year-old woman who sustained a head-on motor vehicle accident with associated chest trauma. During a subsequent hospitalization, she was exposed to subcutaneous heparin and developed significant thrombocytopenia. Shortly thereafter, she re-presented with an acute myocardial infarction. Coronary angiography revealed a spiral dissection with superimposed thrombosis within the right coronary artery, while laboratory testing confirmed the diagnosis of heparin induced thrombocytopenia. She was treated with catheter-based thrombectomy and adjunctive direct thrombin inhibitor therapy, followed by three months of systemic anticoagulation with warfarin. To our knowledge, this represents the first published case of a native vessel myocardial infarction due to the combination of coronary artery dissection and heparin-induced thrombocytopenia.
Metachronous osteoblastoma of the spine and osteoid osteoma of the femur
Authors: Costantino Errani, Giancarlo Facchini, Giuseppe Rossi, Daniel Vanel, Alberto Righi, Ugo Albisinni, Davide Donati
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Osteoblastoma (OBL) and osteoid osteoma (OO) are usually solitary tumours, only rarely being multicentric. Herein, we report an unusual case in which a typical OBL of the spine was followed by an OO of the femur after a disease-free interval of 5 years. We believe that our unique case represents the first report of a metachronous OBL and an OO, and this presentation may confirm the close correlation between these two rare entities.
Pectus excavatum in blunt chest trauma: a case report
Authors: Emmanouil Liodakis, Eirini Liodaki, Hrayr G Basmajian, Nael Hawi, Maximilian Petri, Christian Krettek, Michael Jagodzinski
Journal: J Med Case Rep (2013)

Introduction:
Blunt cardiac rupture is an exceedingly rare injury.
Case presentation:
We report a case of blunt cardiac trauma in a 43-year-old Caucasian German mother with pectus excavatum who presented after a car accident in which she had been sitting in the front seat holding her two-year-old boy in her arms. The mother was awake and alert during the initial two hours after the accident but then proceeded to hemodynamically collapse. The child did not sustain any severe injuries. Intraoperatively, a combined one-cm laceration of the left atrium and right ventricle was found.
Conclusion:
Patients with pectus excavatum have an increased risk for cardiac rupture after blunt chest trauma because of compression between the sternum and spine. Therefore, patients with pectus excavatum and blunt chest trauma should be admitted to a Level I Trauma Center with a high degree of suspicion.
Supratentorial dural-based collision of cavernoma and meningioma: a case report
Authors: A V Dubovoy, V M Jafarov, E I Voronina
Journal: Chin Neurosurg J (2018)
Keywords: cavernous angioma, cavernous hemangioma, cavernous malformation, collision tumor, convexity tumor, dural lesion, meningioma
MeSH terms: Case Reports

Background:
Collision tumor is a very rare case of cerebral lesion. Approximately 50 reports of intracranial collision tumors were described in the literature. We present a case of supratentorial dural-based convexity collision tumor radiologically mimicking cavernous malformation and composed of cavernous malformation and meningioma.
Case presentation:
The case presents a 63-year-old female having MR findings such as hemorraged supratentorial dural-based mass with "popcorn" signs and hemosiderin deposits. The patient underwent craniotomy and evacuation of the subdural hematoma with resection of the tumor mass. Histologically the lesion had signs of a cavernoma and meningioma. MRI in a year after surgery did not reveale residual tumor mass or recurrence.
Conclusions:
Collision tumor is a very rare case. Preoperative diagnosis of a dural lesion is difficult and challenging. A neuroradiological differential diagnosis of similar cases needs focused attention.
Methylphenidate treatment for cognitive symptoms associated with ADHD in a pediatric epilepsy patient following resection of a left frontal cortical dysplasia
Authors: Donald J Bearden, Sidra Shakil, David O'Banion, Kim E Ono, Daniel L Drane, David W Loring, Daniel C Tarquinio
Journal: Epilepsy Behav Rep (2021)
Keywords: attention deficit hyperactivity disorder, epilepsy surgery, left frontal cortical dysplasia, methylphenidate, pediatric epilepsy
MeSH terms: Case Reports

We present data on a 10-year-old patient with drug-resistant epilepsy who was treated with methylphenidate for symptoms of attention deficit hyperactivity disorder (ADHD) that developed after she underwent surgical resection of a left frontal cortical dysplasia. . The patient's parents reported methylphenidate was helpful in improving their child's reading performance. Based on parents' report, we examined benefits of methylphenidate on our patient's cognitive problems in a controlled setting. The patient underwent a neuropsychological evaluation completed in three sessions over a five-day period. Methylphenidate was administered prior to the second testing session only and was associated with improvements in the patient's attention, executive function, processing speed, and short-term memory performances. In comparison, word-reading performance, a task less susceptible to neurological impairment, was stable over the three sessions. The patient remained seizure-free after surgery and use of methylphenidate did not reduce seizure threshold. These findings support the use of methylphenidate in treating targeted cognitive problems associated with ADHD emerging after epilepsy surgery in children.
Clinical variant of ablepharon macrostomia syndrome
Authors: Jose Larumbe, Patricia Villalta, Ines Velez
Journal: Case Rep Dermatol Med (2011)
MeSH terms: Case Reports

Ablepharon syndrome is an extremely rare genetic problem that causes severe craniofacial deformities and numerous other abnormalities of the face, genitalia, and skin. The literature regarding this condition is scarce. We present a case of this syndrome with dental manifestations, not reported before, and discuss its characteristics in order to increase the knowledge of this condition among the dental profession.
Autoimmune encephalopathy associated with thyroid autoantibodies as the cause of reversible cognitive impairment
Authors: Natallia Maroz, Nechama Bernhardt, Robert Dobbin Chow
Journal: J Community Hosp Intern Med Perspect (2012)
Keywords: autoimmune encephalopathy, hashimoto, reversible cognitive impairment, thyroid-peroxidase antibody
MeSH terms: Case Reports

We herewith describe a patient with acute confusion, expressive aphasia and generalized seizures. A through workup excluded most causes of encephalopathy. He was, however, found to have TSH=18.6 MIU/ml, T3reverse=0.44nmol/L, T4=0.8ng/dl and Anti-Thyroid-Peroxidase AB titer >1000 IU/ml. Based on the above findings the patient was diagnosed with Hashimoto's encephalopathy and his mental status showed dramatic improvement (MMS 30/30) with high dose prednisone. Hashimoto's encephalopathy is rare disorder of presumed autoimmune origin characterized by cognitive decline, seizures, neuro-psychiatric symptoms, high titers of Anti-Thyroid-Peroxidase AB, and a positive response to steroids.