OpenMed/multicare-articles huggingface dataset:
Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration
Authors: S Choayb, H Adil, Daoud Ali Mohamed, N Allali, L Chat, S El Haddad
Journal: Case Rep Radiol (2021)
MeSH terms: Case Reports

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). We present a case of an 11 year-old boy presenting extrapyramidal signs and developmental regression. T2-weighted images showed the classic eye of the tiger sign seen in pantothenate kinase-associated neurodegeneration.
Novel ZEB2-BCL11B Fusion Gene Identified by RNA-Sequencing in Acute Myeloid Leukemia with t(2;14)(q22;q32)
Authors: Synne Torkildsen, Ludmila Gorunova, Klaus Beiske, Geir E Tjønnfjord, Sverre Heim, Ioannis Panagopoulos
Journal: PLoS One (2015)
MeSH terms: Chromosomes, Human, Pair 14 / genetics, Chromosomes, Human, Pair 2 / genetics, Leukemia, Myeloid, Acute / genetics, Mutant Chimeric Proteins / genetics, Oncogene Proteins, Fusion / genetics, Sequence Analysis, RNA, Translocation, Genetic, Case Reports, Research Support, Non-U.S. Gov't, Adult, Base Sequence, Chromosome Aberrations, Chromosome Banding, Fatal Outcome, Humans, Male, Molecular Sequence Data, Real-Time Polymerase Chain Reaction, Reproducibility of Results, Mutant Chimeric Proteins, Oncogene Proteins, Fusion, ZEB2-BCL11B fusion protein, human

RNA-sequencing of a case of acute myeloid leukemia with the bone marrow karyotype 46,XY,t(2;14)(q22;q32)[5]/47,XY,idem,+?4,del(6)(q13q21)[cp6]/46,XY[4] showed that the t(2;14) generated a ZEB2-BCL11B chimera in which exon 2 of ZEB2 (nucleotide 595 in the sequence with accession number NM_014795.3) was fused to exon 2 of BCL11B (nucleotide 554 in the sequence with accession number NM_022898.2). RT-PCR together with Sanger sequencing verified the presence of the above-mentioned fusion transcript. All functional domains of BCL11B are retained in the chimeric protein. Abnormal expression of BCL11B coding regions subjected to control by the ZEB2 promoter seems to be the leukemogenic mechanism behind the translocation.
Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review
Authors: Su Jin Kim, Aram Yang, Ji Sun Park, Dae Gyu Kwon, Jeong-Seop Lee, Young Se Kwon, Ji Eun Lee
Journal: Front Genet (2020)
Keywords: ankrd11 gene, kbg syndrome, growth hormone, intellectual disability—genetics, phenotype (mesh)
MeSH terms: Case Reports

Background:
KBG syndrome (OMIM #148050) is a rare, autosomal dominant inherited genetic disorder caused by heterozygous mutations in the ankyrin repeat domain-containing protein 11 (ANKRD11) gene or by microdeletion of chromosome 16q24.3. It is characterized by macrodontia of the upper central incisors, distinctive facial dysmorphism, short stature, vertebral abnormalities, hand anomaly including clinodactyly, and various degrees of developmental delay. KBG syndrome presents with variable clinical feature and severity among individuals. Here, we report two KBG patients who have different novel heterozygous mutations of ANKRD11 gene with wide range of clinical manifestations.
Case presentation:
Two novel heterozygous mutations of ANKRD11 gene were identified in two unrelated Korean patients with variable clinical presentations. The first patient presented with short stature and early puberty and was treated with growth hormone and gonadotropin-releasing hormone agonist without adverse effects. He had mild intellectual disability. In targeted exome sequencing, a novel de novo frameshift variant was identified in ANKRD11, c.5889del, and p. (Ile1963MetfsX9). The second patient had severe intellectual disability with epilepsy. He had normal height and prepubertal stage at the age of 11 years. He had behavioral problems such as autism-like features, anxiety, and stereotypical movements. Whole exome sequencing (WES) was performed, and the novel heterozygous mutation, c3310dup, p. (Glu110GlyfsTer5) in ANKRD11 was identified.
Conclusion:
KBG syndrome is often underdiagnosed because of its non-specific features and phenotypic variability. Performing a next-generation sequencing panel, including the ANKRD11 gene for cases of developmental delay with/without short stature may be helpful to identify hitherto undiagnosed KBG syndrome patients.
Influenza SIRS with Minimal Pneumonitis
Authors: Shruti Erramilli, Praveen Mannam, Constantine A Manthous
Journal: Front Med (Lausanne) (2016)
Keywords: ards, endothelium, influenza, neuraminidase inhibitors, systemic inflammatory response syndrome
MeSH terms: Case Reports

Although systemic inflammatory response syndrome (SIRS) is a known complication of severe influenza pneumonia, it has been reported very rarely in patients with minimal parenchymal lung disease. We here report a case of severe SIRS, anasarca, and marked vascular phenomena with minimal or no pneumonitis. This case highlights that viruses, including influenza, may cause vascular dysregulation causing SIRS, even without substantial visceral organ involvement.
Outcome of inadvertent high dose BCG administration in newborns at a tertiary care hospital, Karachi- Case series
Authors: Sonia Qureshi, Khalil Ahmad, Paras Fatima, Rabia M Hassan, Farheen Sherali, Naureen Lalani, Fyezah Jehan, Syed Asad Ali, Farah Naz Qamar
Journal: PLoS One (2019)
MeSH terms: Antitubercular Agents / administration & dosage, BCG Vaccine / administration & dosage, Dose-Response Relationship, Drug, Tuberculosis / drug therapy, Antitubercular Agents / adverse effects, BCG Vaccine / adverse effects, Drug Combinations, Female, Humans, Infant, Infant, Newborn, Isoniazid / administration & dosage, Male, Mycobacterium bovis / drug effects, Mycobacterium bovis / pathogenicity, Pakistan / epidemiology, Rifampin / administration & dosage, Tertiary Care Centers, Tuberculosis / epidemiology, Tuberculosis / microbiology, Vaccination, Antitubercular Agents, BCG Vaccine, Drug Combinations, Isoniazid, Rifampin

Bacillus Calmette-Guérin (BCG) vaccine is given to newborns soon after birth. BCG vaccine overdose has been rarely reported. Here we report the outcome of newborns who accidently received high dose BCG at a tertiary care hospital, Karachi. We reviewed records of 26 newborns, who accidentally received intradermal high dose BCG, used for the treatment of urinary bladder cancers and 80 times higher dose than the BCG used for routine vaccination. The incident happened from 14-16th April, 2016 at Aga Khan University Hospital, Karachi. Analysis was carried out using SPSS. A total of 23/26(88.5%) newborns were followed for atleast 3 months and 11/26 (42.3%) were followed for atleast one year. 13/26 (50%) were male. All 26 patients were prescribed isoniazid and rifampicin for 3 months. 3/26 (11.5%) were lost to follow-up before completion of anti-tuberculous drugs (ATT). Lesions at the BCG site were observed in 16/26 (61.5%) infants, of which 15 (93.8%) had a papule, 3 (18.8%) developed a pustule, 3 (18.8%) had skin induration and 2 (12.5%) had skin erythema. Axillary lymphadenopathy was observed in 1/26 (3.8%) patient. Coagulation was deranged in 3/26 (11.5%) of babies. Intracranial bleeding was observed in 1/26 (3.8%) case. Localized skin lesions were the most common adverse events. None of them developed clinical tuberculosis. Chemoprophylaxis for inadvertent high dose BCG administration should be given for atleast 3 months. Furthermore, vigilant follow-up, transparency and disclosure are the vital steps in the management of any medical error.
Melkersson-Rosenthal Syndrome: A Rare Cause of Recurrent Facial Nerve Palsy and Acute Respiratory Distress Syndrome
Authors: Behiye Deniz Kosovali, Asiye Yavuz, Fatma Irem Yesiler, Mustafa Kemal Bayar
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Melkersson-Rosenthal Syndrome (MRS) is a rare disease characterized by persistent or recurrent orofacial oedema, relapsing peripheral facial paralysis, and furrowed tongue. Pathologically, granulomatosis is responsible for oedema of face, labia, oral cavity, and facial nerve. We present a patient with MRS admitted to our hospital with acute respiratory distress syndrome (ARDS). 45-year-old woman was admitted to an emergency department with dyspnea and swelling on her hands and face. She was intubated because of ARDS and accepted to intensive care unit (ICU). After weaning from ventilatory support, peripheral facial paralysis was diagnosed and steroid treatment was added to her therapy. On dermatologic examination, oedema on her face, pustular lesions on her skin, and fissure on her tongue were detected. The patient informed us about her recurrent and spontaneous facial paralysis in previous years. According to her history and clinical findings, MRS was diagnosed.
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
Authors: Rishika P Sakaria, Parul G Zaveri, Shannon Holtrop, Jie Zhang, Chester W Brown, Eniko K Pivnick
Journal: Front Genet (2021)
Keywords: kmt2d, papvr, congenital anomalies, holoprosencephaly (hpe), kabuki syndrome (ks), truncus, whole exome sequencing
MeSH terms: Case Reports

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies.
Adult renal sarcoma: A rare case of recurrence 13 years after initial resection
Authors: Mahmoud Alameddine, Ian Zheng, Ali Yusufali, Nicholas Mackrides, Gaetano Ciancio
Journal: Clin Case Rep (2018)
Keywords: liposarcoma, radical nephrectomy, renal sarcoma, soft tissue sarcoma
MeSH terms: Case Reports

Renal sarcoma is a rare and aggressive malignancy without proper guidelines for treatment. Due to the aggressiveness of this disease and the potential for recurrence, we believe that extensive surgical resection with healthy margins may be the best option to treat this condition during both initial resection and resection of the recurrent lesion. Clinical follow-up is also important to monitor for tumor recurrence.
Marantic Endocarditis in Metastatic Lung Adenocarcinoma
Authors: Anirudh Palicherla, Suma Pusapati, Dixitha Anugula, Abhishek Thandra
Journal: Methodist Debakey Cardiovasc J (2023)
Keywords: adenocarcinoma, marantic endocarditis, transesophageal echocardiogram
MeSH terms: Adenocarcinoma of Lung / complications, Endocarditis / diagnosis, Endocarditis / diagnostic imaging, Endocarditis, Non-Infective / complications, Endocarditis, Non-Infective / etiology, Lung Neoplasms / complications, Lung Neoplasms / diagnostic imaging, Case Reports, Humans

Marantic endocarditis is a rare condition associated with autoimmune disease, malignancy, and hypercoagulable states. It is characterized by sterile friable vegetations composed of fibrin and platelets that confer a high risk of systemic embolism. Here we showcase imaging that led to the diagnosis of an interesting case of marantic endocarditis secondary to metastatic malignancy.
Laparoscopic extraction of a urethral self-inflicted needle from pelvis in a boy: a case report
Authors: Xiaoqing Wang, Xiangyu Wu, Wei Liu, Guoqiang Du, Yanze Wang, Rongde Wu, Feng Guo
Journal: Front Pediatr (2023)
Keywords: case report, children, foreign body (fb), laparoscopy, migration, urethra
MeSH terms: Case Reports

Introduction:
Self-insertion of foreign bodies in the urethra is an infrequent occurrence in children, and their management aims to minimize urethral morbidity. Endoscopic removal presents a significant challenge, particularly in boys. Currently, there are few reports on laparoscopic management of urethral foreign bodies that have migrated to the pelvic cavity.
Case description:
An 11-year-old boy presented to the emergency department with complaints of increased frequency of micturition and dysuria. A sharp sewing needle was discovered lodged in the posterior urethra mucosa during cystoscopy. Attempts to remove the needle using an endoscopic grasping forceps were unsuccessful due to the forceps' weak biting power. During a digital rectal examination, the needle migrated into the pelvic region, wedged between the prostatic urethra and the rectal ampulla. After careful inspection of the peritoneal reflection over the fundus of the bladder, the needle was identified and successfully removed through laparoscopy without any complications. Psychiatric counseling was advised for this patient, who was in good condition during an 8-week follow-up.
Conclusions:
Our case demonstrates the first recorded use of laparoscopy to remove a self-inserted urethral needle that had migrated into the pelvic region, after failed attempts at endoscopic extraction. Future cases may benefit from considering laparoscopic interventions for similar circumstances.
Alveolar Soft Part Sarcoma of Urinary Bladder Occurring as a Second Primary Malignancy: A Case Report and Literature Review
Authors: Manint Usawachintachit, Piyada Sitthideatphaiboon, Voranuch Thanakit, Sulada Pukiat, Kamol Panumatrassamee, Julin Opanuraks, Apirak Santi-Ngamkun
Journal: Case Rep Urol (2016)

We report a case of bladder alveolar soft part sarcoma in an 18-year-old Thai male patient who had been treated with testicular radiation and systemic chemotherapy for acute lymphoblastic leukemia with testicular relapse. He presented with recurrent dysuria and gross hematuria. Cystoscopy revealed a 2-centimeter irregular sessile mass at the bladder base adjacent to left ureteral orifice. Transurethral resection of the tumor was performed. The histopathological diagnosis was alveolar soft part sarcoma. Chest and abdominal computed tomography showed no evidence of metastasis. He was treated with partial cystectomy and left ureteral reimplantation with negative surgical margin. No evidence of recurrence was found during a 28-month follow-up period with surveillance cystoscopy and computed tomography of the chest and abdomen.
Thrombotic Microangiopathy, an Unusual Form of Monoclonal Gammopathy of Renal Significance: Report of 3 Cases and Literature Review
Authors: Edward J Filippone, Eric D Newman, Li Li, Rakesh Gulati, John L Farber
Journal: Front Immunol (2021)
Keywords: c3 glomerulopathies, alternate pathway of complement, atypical hemolytic and uremic syndrome, eculizumab, monoclonal gammopathy of renal significance, plasma cell dyscrasia, thrombotic microangiopathy
MeSH terms: Kidney Diseases / etiology, Monoclonal Gammopathy of Undetermined Significance / complications, Thrombotic Microangiopathies / etiology, Case Reports, Review, Aged, 80 and over, Humans, Male, Middle Aged

Monoclonal gammopathies result from neoplastic clones of the B-cell lineage and may cause kidney disease by various mechanisms. When the underlying clone does not meet criteria for a malignancy requiring treatment, the paraprotein is called a monoclonal gammopathy of renal significance (MGRS). One rarely reported kidney lesion associated with benign paraproteins is thrombotic microangiopathy (TMA), provisionally considered as a combination signifying MGRS. Such cases may lack systemic features of TMA, such as a microangiopathic hemolytic anemia, and the disease may be kidney limited. There is no direct deposition of the paraprotein in the kidney, and the presumed mechanism is disordered complement regulation. We report three cases of kidney limited TMA associated with benign paraproteins that had no other detectable cause for the TMA, representing cases of MGRS. Two of the cases are receiving clone directed therapy, and none are receiving eculizumab. We discuss in detail the pathophysiological basis for this possible association. Our approach to therapy involves first ruling out other causes of TMA as well as an underlying B-cell malignancy that would necessitate direct treatment. Otherwise, clone directed therapy should be considered. If refractory to such therapy or the disease is severe and multisystemic, C5 inhibition (eculizumab or ravulizumab) may be indicated as well.
Giant plexiform schwannoma of the tongue
Authors: Lluís Nisa, Toni von Büren, Amine Tiab, Roland Giger
Journal: Case Rep Otolaryngol (2011)
MeSH terms: Case Reports

We present the case of a 38-year-old woman that presented with a very slowly enlarging mass of the tongue. MRI revealed a large mass originating in the tongue base and extending to the supraglottic space. Biopsy of this tumor confirmed the diagnosis of schwannoma. An endaural approach allowed complete resection of the tumor. Definitive histopathological examination showed a plexiform schwannoma. Schwannoma or neurilemoma represents a benign tumor potentially affecting any nerve. The head and neck region is a relatively common location for schwannomas, but tongue schwannomas are considered to be rare and pose the problem of both clinical and histological differential diagnosis of tongue masses.
Basilar Predominant Emphysema: Thinking beyond Alpha-1-Antitrypsin Deficiency
Authors: Ho-Man Yeung, Lauren Gaffaney
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

Basilar predominant emphysema, or disproportionate emphysematous involvement of the lung bases compared to the apices, is an uncommon radiographic pattern of emphysema traditionally associated with alpha-1-antitrypsin deficiency (AATD). We present a case of a 59-year-old female with 41 pack-year tobacco use, Stage IV COPD with supplemental oxygen, and bibasilar predominant emphysema who successfully underwent bronchoscopic lung volume reduction. She presented with recurrent hospitalizations for frequent exacerbations. After lung reduction, the patient displayed improvement in functional status without hospitalizations at the 15-month follow-up. Careful history taking is essential for any patients diagnosed with lower lobe emphysema to elucidate the underlying etiology. This case challenges the notion that basilar emphysema is sensitive or specific for AATD and emphasizes that this pattern of emphysema has a broad differential diagnosis and alternative etiologies should be considered. Our patient was ultimately diagnosed with smoking-related emphysema, with atypical bibasilar involvement. Furthermore, basilar predominant emphysema should be considered a separate entity from its apical predominant counterpart.
Management of a rare case of arrhythmogenic right ventricular dysplasia in pregnancy: a case report
Authors: Jarraya Anouar, Smaoui Mohamed, Kolsi Kamel
Journal: Pan Afr Med J (2014)
Keywords: arrhythmogenic right ventricular dysplasia, anesthesia specificities, cardiomyopathy, pregnency
MeSH terms: Arrhythmogenic Right Ventricular Dysplasia / therapy, Pregnancy Complications, Cardiovascular / therapy, Case Reports, Adult, Arrhythmogenic Right Ventricular Dysplasia / complications, Arrhythmogenic Right Ventricular Dysplasia / physiopathology, Cesarean Section, Female, Humans, Pregnancy, Pregnancy Complications, Cardiovascular / physiopathology, Pregnancy Outcome, Severity of Illness Index

Arrhythmogenic right ventricular dysplasia is a rare but not exceptional inherited cardiomyopathy characterized by fibrofatty replacement of the myocardium of the right ventricular which could lead to serious arrhythmia and sudden death. Only a few cases of pregnancies with ARVD have been reported. The aim of this case presentation is to describe the clinical characteristics and anesthetics specificities in management of this disease in pregnancy and in delivery. We report the case of a young woman aged 28 years old with a past history of ARVD treated by medical treatment with radiofrequency ablation. This patient was pregnant and it was scheduled for cesarean section delivery. Preoperative evaluation showed a well tolerated pregnancy inspite of the severity of the ARVD. It was a severe form of ARVD because of RV dilation, the spread of the disease to LV and the history of ventricular tachycardia during an attempted of ablation by radio frequency. The treatment received by the patient was kept until the day of surgery. The act took place under general anesthesia. The postoperative period was uneventful and morphine titration was used for pain relief. The patient exits the hospital 3 days after delivery and breastfeeding was forbidden. We should pay attention on this disease witch is not yet well known and witch is highly risky in the peri-partum period. Even if pregnancy may be tolerated in moderate forms of ARVD, conception and delivery sould be discouraged especially in severe forms.
Primary renal lymphoma: an unusual finding following radical nephrectomy
Authors: Cody M Rissman, Lawrence M Dagrosa, Jason R Pettus, Jessica L Dillon, Einar F Sverrisson
Journal: Clin Nephrol Case Stud (2017)
Keywords: kidney, lymphoma
MeSH terms: Case Reports

Secondary kidney involvement by disseminated non-Hodgkin's lymphoma (NHL) is quite common and is estimated to approach 30 - 60% in NHL patients. However, primary renal lymphoma is exceedingly rare and estimated to make up less than 1% of all kidney masses. We report a case of primary renal NHL presenting with profound hypercalcemia and renal failure recalcitrant to medical management, ultimately treated with urgent radical nephrectomy. To our knowledge, this is the first report of primary renal lymphoma presenting in this acute fashion.
Physiological Stimulation of the Synthesis of Preelastic Fibers in the Dermis of a Patient with Fibrosis
Authors: Jose Maria Pereira de Godoy, Lívia Maria Pereira de Godoy, Maria de Fatima Guerreiro Godoy, Dalisio de Santi Neto
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Objective:
The aim of the present study was to report the physiological stimulation of the synthesis of preelastic fibers in the dermis of a patient with fibrosis.
Design:
A clinical study was conducted involving the analysis of histological changes in preelastic fibers following treatment for stage II primary lymphedema for the clinical reversal of lymphedema and fibrosis. Setting. University Hospital of the São Jose do Rio Preto of School of Medicine in 2020. Participant was a 67-year-old male patient with late-onset primary lymphedema diagnosed 12 years earlier. Intervention is the lymphatic stimulation using the Godoy method adapted to the treatment of fibrosis. Main outcomes and measures are biopsies before and after treatment. Ten randomly selected histological fields were evaluated using the multipoint morphometric method. The values with this method are relative and expressed as percentages. Statistical analysis was performed with the t-test, considering a 95% significance level.
Results:
A visible, significant difference in the percentage of preelastic fibers was found between the preintervention and postintervention slides, which were confirmed by the microscopic evaluation and quantification (4.95 ± 0.64% and 14.70 ± 1.06%, respectively).
Conclusion:
The physiological stimulation of the lymphatic system using a specific method resulted in the clinical reduction of fibrosis, the return of the elasticity of the skin, and the stimulation of the synthesis of preelastic fibers.