OpenMed/multicare-articles huggingface dataset:
Friedreich Ataxia and nephrotic syndrome: a series of two patients
Authors: Julianna E Shinnick, Charles J Isaacs, Sharon Vivaldi, Kimberly Schadt, David R Lynch
Journal: BMC Neurol (2016)
MeSH terms: Friedreich Ataxia / physiopathology, Nephrotic Syndrome / physiopathology, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adrenal Cortex Hormones / administration & dosage, Adrenal Cortex Hormones / pharmacology, Adult, Comorbidity, Female, Friedreich Ataxia / drug therapy, Friedreich Ataxia / epidemiology, Humans, Male, Nephrotic Syndrome / drug therapy, Nephrotic Syndrome / epidemiology, Adrenal Cortex Hormones

Background:
Friedreich Ataxia (FRDA) is a neurodegenerative disorder characterized by gait and balance abnormalities, sensory loss, weakness, loss of reflexes, and ataxia. Previously, two cases of FRDA and Nephrotic Syndrome (NS) have been reported. Here we report two additional individuals with NS and FRDA, providing further evidence for a possible connection between the two diseases and focusing on the neuromuscular responsiveness of one individual to corticosteroid treatment, an effect not previously described in FRDA.
Case presentations:
We describe two patients with FRDA also presenting with NS. The first patient was diagnosed with FRDA at age 5 and NS at age 7 following the development of periorbital edema, abdominal swelling, problems with urination, and weight gain. The second patient was diagnosed with NS at age 2 after presenting with periorbital edema, lethargy, and abdominal swelling. He was diagnosed with FRDA at age 10. Nephrotic syndrome was confirmed by laboratory testing in both cases and both individuals were treated with corticosteroids.
Conclusions:
Nephrotic syndrome may occur in individuals with FRDA, but was not associated with myoclonic epilepsy in our patients as previously described. It is unlikely that this association is coincidental given the rarity of both conditions and the association of NS with mitochondrial disease in model systems, though coincidental coexistence is possible. One patient showed neurological improvement following steroid treatment. Although neurological improvement could be attributed to the treatment of NS, we also identified some degree of steroid responsiveness in a series of patients with FRDA but without NS.
Biopsy proven lupus nephritis in a black male patient in West Africa with systemic lupus erythematosus: case report
Authors: Elliot Koranteng Tannor, Kwame Yeboah-Mensah
Journal: Pan Afr Med J (2018)
Keywords: lupus nephritis, west africa, black male, renal biopsy, systemic lupus erythematosus
MeSH terms: Black People, Lupus Erythematosus, Systemic / complications, Lupus Nephritis / diagnosis, Case Reports, Africa, Western, Biopsy / methods, Humans, Lupus Nephritis / physiopathology, Male, Prognosis, Young Adult

Lupus nephritis (LN) is a complication of systematic lupus erythematosus (SLE) with significant impact on morbidity and mortality. It is known commonly to affect females but has worse prognosis when males or blacks are affected. In a setting with deficiency in health care delivery, the diagnosis and adequate management of SLE patients becomes difficult and hence less cases of lupus nephritis in black males have been reported. We present a case of a male black patient with SLE who presented with neurolupus, serositis, skin manifestations and Class IV/V lupus nephritis on histology. Our case highlights the challenges in the management of lupus nephritis and the complications with immunosuppression in an attempt to induce remission. There is the need for high index of suspicion for the diagnosis of lupus nephritis especially in black males for prompt management to get the best outcome.
A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State
Authors: Cheng Yang, Yuan Song, Zhaowei Chen, Xiaohan Yuan, Xinhua Chen, Guohua Ding, Yang Guan, Mary McGrath, Chunhua Song, Yongqing Tong, Huiming Wang
Journal: Front Genet (2019)
Keywords: alport syndrome, col4a4, collagen type iv, genomic variant, hereditary nephropathy, human genetics
MeSH terms: Case Reports

Alport syndrome (AS) is a hereditary nephropathy characterized by glomerular basement membrane lesions. AS shows a relatively rare entity with autosomal dominant gene mutation (accounts for less than 5% of AS cases) and is widely believed to be a consequence of heterozygous variants in the COL4A3 and COL4A4 genes. Until now, there have been no reports of homozygous variants in genes in AS patients, and it is scarce to detect both homozygous and heterozygous variants in a single AS pedigree. We performed genetic analysis by exome sequencing (exome-seq) in a Chinese family with AS and found four individuals harboring the COL4A4 c.4599T > G variant, a novel COL4A4 nonsense mutation that gains stop codon and results in a truncated protein. The proband and her two siblings were determined to be heterozygous, whereas their mother was homozygous. The proband satisfied the criteria for the diagnosis of AS, which included clinical manifestations of microscopic hematuria and proteinuria, and pathological features of the glomerular basement membrane (GBM), including irregular thickening and splitting. However, the other three individuals who were homozygous or heterozygous for the variant exhibited mild clinical features with isolated microscopic hematuria. In summary, we identified a novel pathogenic variant in either the heterozygous or homozygous state of the COL4A4 gene in a Chinese family with AS. Our results also suggest that the severity of clinical manifestations may not be entirely attributed to by the COL4A4 genetic variant itself in patients.
Intussusception in Premature Baby: Unusual Cause of Bowel Obstruction and Perforation
Authors: Kanokkan Tepmalai, Thanyaluck Naowapan, Jesda Singhavejsakul, Mongkol Laohapensang, Jiraporn Khorana
Journal: J Neonatal Surg (2017)
Keywords: necrotizing enterocolitis, neonate, premature
MeSH terms: Case Reports

Intussusception in a premature baby is a rare condition. We report a male preterm infant, who developed abdominal distension and abdominal wall erythema. He was operated with suspicion of NEC but an ileo-ileal intussusception and intestinal perforation were encountered at operation.
Paraganglioma-induced inverted takotsubo-like cardiomyopathy leading to cardiogenic shock successfully treated with extracorporeal membrane oxygenation
Authors: Fang-Fang Zhou, Jia-Sheng Ding, Min Zhang, Xin Tian
Journal: Open Med (Wars) (2022)
Keywords: cardiac arrest, cardiogenic shock, extracorporeal membrane oxygenation, paraganglioma, takotsubo cardiomyopathy
MeSH terms: Case Reports

Paragangliomas are rare neuroendocrine tumors that originate in the chromaffin cells of the adrenal medulla or lymph nodes. Paragangliomas manifest in rare cases as catecholamine crisis, leading to heart failure, intracranial hemorrhage, renal failure, arrhythmias, pulmonary edema, or multisystem failure. Takotsubo cardiomyopathy is also called apical ballooning syndrome or stress cardiomyopathy. Left ventricular dysfunction with apical hyperkinesis and basilar and midventricular akinesis in the absence of coronary artery disease is highly suggestive of a variant of stress cardiomyopathy (inverted takotsubo cardiomyopathy). Herein, we report the case of a 69-year-old man with an unknown retroperitoneal paraganglioma who suffered from cardiogenic shock due to inverted takotsubo cardiomyopathy. He was treated with venoarterial extracorporeal membrane pulmonary oxygenation (ECMO) in combination with an intra-aortic balloon pump. After the restoration of cardiac function, a successful transition to curative retroperitoneal paraganglioma resection was performed. We conclude that ECMO is a valuable option for undiagnosed endocrine emergencies, helping to restore cardiac function and allowing sufficient time for further accurate diagnosis and specific treatment.
FNAB cytology of extra-cranial metastasis of glioblastoma multiforme may resemble a lung primary: a diagnostic pitfall
Authors: Mamatha Chivukula, H E Dincer, Julie A Biller, Hendrikus G Krouwer, Grant Simon, Vinod Shidham
Journal: Cytojournal (2005)

Background:
As extra-cranial metastasis of glioblastoma multiforme (GBM) is rare, it may create a diagnostic dilemma especially during interpretation of fine needle aspiration biopsy (FNAB) cytology.
Case presentation:
We present transbronchial FNAB findings in a 62-year-old smoker with lung mass clinically suspicious for a lung primary. The smears of transbronchial FNAB showed groups of cells with ill-defined cell margins and cytological features overlapping with poorly differentiated non-small cell carcinoma. The tumor cells demonstrated lack of immunoreactivity for cytokeratin, thyroid transcription factor-1, and usual neuroendocrine markers, synaptophysin and chromogranin in formalin-fixed cellblock sections. However, they were immunoreactive for the other neuroendocrine immunomarker, CD56, suggesting neural nature of the cells. Further scrutiny of clinical details revealed a history of GBM, 13 months status-post surgical excision with radiation therapy and systemic chemotherapy. The tumor recurred 7 months earlier and was debulked surgically and with intra-cranial chemotherapy. Additional evaluation of tumor cells for glial fibrillary acidic protein (GFAP) immunoreactivity with clinical details resulted in final interpretation of metastatic GBM.
Conclusion:
Lack of clinical history and immunophenotyping may lead to a diagnostic pitfall with possible misinterpretation of metastatic GBM as poorly differentiated non-small cell carcinoma of lung in a smoker.
Cochlear Implantation in Charcot-Marie-Tooth Disease: Case Report and Review of the Literature
Authors: C Lane Anzalone, Sarah Nuhanovic, Amy P Olund, Matthew L Carlson
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Introduction:
Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy associated with motor and sensory impairment and can result in profound sensorineural hearing loss (SNHL). Currently, the role of cochlear implantation in the setting of CMT and other progressive peripheral neurodegenerative disorders is not well established.
Methods:
Case report and review of the English literature.
Results:
A 70-year-old male with CMT was referred for evaluation of progressive asymmetric SNHL and reported a 15-year duration of deafness involving the left ear. Audiometric testing confirmed profound SNHL in the left ear, while the right ear exhibited moderate-to-severe SNHL. Left-sided cochlear implantation was performed using a conventional length lateral wall electrode. Intraoperative device testing found normal impedance levels throughout the array; however, electrically evoked auditory potentials were absent on all electrodes. Upon initial activation 3 weeks after surgery, the patient reported excellent access to sound in the cochlear implant-only condition. He has made good progress at each subsequent visit; speech perception testing after seven months showed improvement from 0% to 32% on AzBio sentence and 53% on CNC phoneme testing in the cochlear implant-only condition.
Conclusion:
We report the third case of cochlear implantation in a patient with CMT. SNHL in CMT is hypothesized to result from disruption of synchronous activity of the cochlear nerve. In patients with CMT, cochlear implantation may reconstitute synchronous neural activity by way of supraphysiological electrical stimulation. Our results corroborate two earlier reports that cochlear implantation is a viable option for rehabilitation of SNHL in this unique subset of patients.
Chronic constipation in the elderly: an unusual presentation of colonic dysmotility in an elderly patient
Authors: R Peravali, H Kranenburg, J E Martin, N Keeling
Journal: Case Rep Surg (2013)

Introduction. Chronic constipation is common in the elderly, and often no underlying pathology is found. Primary colonic dysmotility has been described in children but is rare in the elderly. Case report. We present an 82-year-old female with long standing constipation presenting acutely with large bowel obstruction. Laparotomy and Hartman's procedure was performed, and a grossly distended sigmoid colon was resected. Histology revealed a primary myopathic process. Conclusion. Primary colonic myopathy should be considered in elderly patients presenting with large bowel obstruction and a long preceding history of constipation, particularly when previous endoscopic examinations were normal.
Difficulties in assessing cytomegalovirus-associated gastric perforation in an HIV-infected patient
Authors: Bruno Mégarbane, Dabor Résière, Jacqueline Ferrand, Laurent Raskine, Kouroche Vahedi, Frédéric J Baud
Journal: BMC Infect Dis (2005)
MeSH terms: Cytomegalovirus Infections / complications, HIV Infections / complications, Stomach / pathology, Stomach Diseases / complications, Stomach Diseases / diagnosis, Case Reports, Antiviral Agents / therapeutic use, Cytomegalovirus Infections / drug therapy, Fatal Outcome, Ganciclovir / therapeutic use, Humans, Male, Middle Aged, Stomach Diseases / pathology, Stomach Diseases / virology, Antiviral Agents, Ganciclovir

Background:
Active Cytomegalovirus (CMV) infection is a common complication in advanced symptomatic Human Immunodeficiency Virus (HIV) infection. CMV-induced intestinal perforations are hard to diagnose and may be observed throughout the gastrointestinal tract. Isolated stomach perforation is exceptional.
Case presentation:
A 47-year-old man was admitted to our intensive care unit with multiorgan failure. Gastrointestinal endoscopic examination showed erythematous gastritis but normal duodenum and colon. CMV blood culture was positive. Histologic examination of a gastric biopsy showed inflammatory infiltrate and immunostaining typical intranuclear CMV inclusion bodies. Concomitant abdominal CT scan disclosed large peripancreatic hypodensities without pneumoperitoneum. The patient died despite supportive therapies and ganciclovir infusion. Postmortem examination showed a 4-cm gastric perforation adhering to the transverse colon and liver, with a thick necrotic inflammatory coating around the pancreas. The whole GI tract, except the stomach, was normal. As other causes, especially Helicobacter pylori infection could be ruled out, a causal relationship between CMV and gastric disease was assumed.
Conclusion:
CMV may be responsible for gastric perforations, with difficulties in assessing the diagnosis. Early diagnosis based on cautious endoscopy and histopathologic examination is needed to make a favorable outcome possible.
Bilateral variation in the branching pattern of the subclavian artery: an unusual finding with clinical implications
Authors: Naveen Kumar, Vijay Samuel Paul, Kumar M R Bhat, Ashwini P Aithal
Journal: J Vasc Bras (2023)
Keywords: cervicodorsoscapular trunk, lateral cervical, subclavian artery, thyrocervical trunk, variation
MeSH terms: Case Reports

The subclavian artery is a significant branch of the aortic arch. We present a rare case of a bilateral variation in the branching pattern of the subclavian artery, observed in an adult male cadaver aged 70 years. On both the sides of the neck, all the branches of the subclavian artery took their origin from its first part. There was a rare occurrence of a cervicodorsoscapular trunk, which gave rise to superficial cervical, suprascapular, and dorsal scapular arteries. The same branching pattern was observed on the left side of the neck, with the presence of another cervicodorsoscapular trunk. Thyrocervical trunk and transverse cervical artery were both absent from the cervical region bilaterally. The inferior thyroid artery was a direct branch from the subclavian artery. Knowledge regarding variations of the subclavian artery is very important as lateral cervical region arteries are important for flap harvesting in plastic and reconstruction surgery. Preoperative radiologic evaluation of pedicles might help in choosing the optimal flap design, prevent ischemic complications, and help to improve overall treatment outcomes.
A Perplexing Case of Abdominal Pain That Led to the Diagnosis of Zollinger-Ellison Syndrome
Authors: Adrienne Lenhart, Mona Hassan, Alireza Meighani, Omar Sadiq, Yousuf Siddiqui
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Zollinger-Ellison syndrome (ZES) is a rare clinical disorder, characterized by hypersecretion of gastric acid and multiple ulcers distal to the duodenal bulb. This occurs via the release of gastrin by neuroendocrine tumors known as gastrinomas. Patients with ZES present with nonspecific GI symptoms, which often leads to a delay in diagnosis. Our patient is a 55-year-old female with chronic abdominal pain, nausea, and diarrhea. She underwent EGD, EUS, MRCP, CT scans, and cholecystectomy, which did not reveal the cause of her symptoms. Repeat EGD showed a cratered ulcer in the second portion of the duodenum, suspicious for ZES. Serum gastrin was initially only moderately elevated while on PPI therapy, but chromogranin A was also elevated. Repeat gastrin level after stopping PPI therapy was 1639 pg/mL. Somatostatin receptor scintigraphy was obtained, which showed two small lesions in the gastrinoma triangle. She subsequently underwent a Whipple pancreaticoduodenectomy and pathology was positive for four microscopic foci of a neuroendocrine tumor. She reported improvement in her symptoms after surgery. This case highlights the need for increased awareness of ZES in patients with unexplained GI complaints and emphasizes the use of multiple modalities in the diagnosis of ZES.
Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
Authors: Sarah Vergult, Bart Leroy, Ilse Claerhout, Björn Menten
Journal: Mol Vis (2013)
MeSH terms: Chromosome Deletion, Chromosomes, Human, X / genetics, Genetic Diseases, X-Linked / genetics, Lyases / genetics, Microphthalmos / genetics, Skin Abnormalities / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Comparative Genomic Hybridization, Female, GTPase-Activating Proteins / genetics, Gene Deletion, Genetic Association Studies, Genetic Diseases, X-Linked / pathology, Genetic Diseases, X-Linked / physiopathology, Humans, Male, Microphthalmos / pathology, Microphthalmos / physiopathology, Middle Aged, Pedigree, Skin Abnormalities / pathology, Skin Abnormalities / physiopathology, Syndrome, X Chromosome Inactivation, ARHGAP6 protein, human, GTPase-Activating Proteins, Lyases, cytochrome C synthetase, Microphthalmia, syndromic 7

Purpose:
Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck. However, inter- and intrafamilial variability is high. Here we report a familial case of MLS.
Methods:
A mother and daughter with MLS underwent a complete ophthalmological examination, and extensive imaging, including anterior segment pictures, corneal topography and keratometry, autofluorescence, infrared reflectance and red free images, as well as spectral-domain optical coherence tomography. The mother also underwent full-field flash electroretinography. In addition, high-resolution array comparative genomic hybridization analysis was performed in both as well as in the maternal grandparents of the proband.
Results:
Microphthalmia and retinal abnormalities were noted in the proband and the mother, whereas only the mother presented with scars of the typical neonatal linear skin defects. Array comparative genomic hybridization analysis revealed a 185-220 kb deletion on chromosome band Xp22.2 including the entire HCCS gene.
Conclusions:
The identification of a deletion including HCCS led to the diagnosis of MLS in these patients. Retinal abnormalities can be part of the ocular manifestations of MLS.
Acute angle closure glaucoma from spontaneous massive subretinal hemorrhage
Authors: George Michael N Sosuan, Rolando Enrique D Domingo
Journal: GMS Ophthalmol Cases (2019)
Keywords: angle closure glaucoma, retinal detachment, subretinal hemorrhage
MeSH terms: Case Reports

Purpose: To report a case of acute angle closure glaucoma from spontaneous massive hemorrhagic retinal detachment from hypertension and diabetes mellitus. Methods: A 52-year-old woman with controlled systemic hypertension and newly diagnosed diabetes mellitus presented with sudden onset painful loss of vision of the right eye. Examination of the right eye showed no light perception, an intraocular pressure of 60 with shallow anterior chamber, microystic corneal edema, closed angles on gonioscopy, and massive subretinal hemorrhage on indirect ophthalmoscopy. The left eye was essentially normal except for arterio-venous crossing changes. Ocular ultrasound revealed massive subretinal hemorrhage with possible intraocular mass. Enucleation of the painful blind eye was done for histologic diagnosis. Results: The ocular pathology revealed complete angle closure with total retinal detachment from massive subretinal hemorrhage with no mass or tumor seen. Metastatic work-up included liver enzymes, mammography, transvaginal ultrasound, chest radiography, and cranial and abdominal computerized tomography which were all normal. Conclusion: Hypertension and diabetes mellitus may cause spontaneous massive subretinal hemorrhagic retinal detachment resulting in secondary angle closure glaucoma. Enucleation is a therapeutic option if a suspicion of an intraocular tumor is present.