OpenMed/multicare-articles huggingface dataset:
Case Report: Unusual Varicella-Zoster Virus Meningoencephalitis With Meningomyelitis Mimicking Central Nervous System Leukemia
Authors: Ranran Tu, Jianyang Liu, Fan Cheng, Weipin Weng, Hainan Zhang, Yi Shu, Xiaomei Wu, Zhiping Hu, Jie Zhang
Journal: Front Med (Lausanne) (2022)
Keywords: varicella-zoster virus, acute myelogenous leukemia, case report, central nervous system infections, metagenomic next-generation sequencing
MeSH terms: Case Reports

Background:
Varicella-Zoster Virus (VZV) is a human pathogen from the α-subfamily of herpesviruses. In immunocompromised patients, VZV may produce disease of the central nervous system (CNS). Clinical manifestations of CNS infection with VZV are non-specific and can mimic other infectious and non-infectious diseases. Due to similar symptoms, CNS infection with VZV represents a diagnostic challenge. Here, we report a case of a patient who showed laboratory and imaging manifestations mimicking the neoplastic etiology.
Case:
A 31-year-old man presented with a 3-day history of headache, 5-h of confusion, generalized tonic-clonic seizures, and transient fever. The patient has a history of acute myelogenous leukemia (AML). His cerebrospinal fluid (CSF) studies revealed markedly elevated protein (10.326 g/L) and atypical cells. Meanwhile, the MRI of brain, cervical, and thoracic spine was reported as extensive (frontal, parieto-occipital and temporal pachymeningeal, and falx cerebri) enhancement and irregular thickening. These examinations suggested a suspicion of CNS involvement of AML. However, based on further investigations with metagenomic next-generation sequencing, a final diagnosis of VZV meningoencephalitis with meningomyelitis was made. With acyclovir and foscarnet sodium therapy, repeated CSF studies revealed normal cell count and protein. No atypical cells were found. The repeated brain MRI also revealed obvious resolution of the previous abnormal pachymeningeal enhancement.
Conclusion:
This case highlights the importance of recognizing the unusual phenomenon of traditional tests in VZV meningoencephalitis with meningomyelitis, and timely using of further precise examinations to detect viral DNA, which is required to prevent missed diagnosis.
Systemic Treatment of Metastatic Conjunctival Melanoma
Authors: Simão Pinto Torres, Teresa André, Emanuel Gouveia, Lívio Costa, Maria José Passos
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Conjunctival melanoma (CM) is an exceptionally rare tumor, with a propensity for local and distant recurrence, with the lungs, skin, liver, and brain being the most common sites of metastasis. Recent progress in systemic treatments, with checkpoint inhibitors and targeted therapies blocking BRAF and MEK, has redefined the standard of care of advanced unresectable and metastatic melanoma. Although most trials did not include patients with conjunctival melanoma, its close molecular and genetic relationship to cutaneous melanoma might suggest a similar response to these novel agents. The authors describe two uncommon cases of metastatic conjunctival melanomas with distinct genetic profiles and, as such, submitted to different systemic treatments.
Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review
Authors: Lin Wan, Wen-Rong Ge, Xiu-Yu Shi, Jing Wang, Lin-Yan Hu, Li-Ping Zou, Guang Yang
Journal: Front Neurol (2019)
Keywords: cobb syndrome, diagnosis, headache, seizure, subarachnoid hemorrhage
MeSH terms: Case Reports

Cutaneous vertebral medullary angiomatosis, also known as Cobb syndrome, is a rare segmental neurocutaneous syndrome. This syndrome is considered to be a non-hereditary congenital disease that is usually associated with arteriovenous malformations in the skin and spine. The clinical manifestations are complex because the lesions can involve the spine, spinal cord, skin, and even the viscera. Here, we present the case of a 10-year-old girl who was admitted to hospital due to headache with two episodes of convulsions. Previous examination at another hospital found no evidence of any abnormalities on either cranial or intracranial vascular magnetic resonance imaging (MRI). However, the patient had a history of subcutaneous hemangioma. Following exhaustive tests at our hospital, she was diagnosed with Cobb syndrome. She received surgery, treatment for decreasing intracranial pressure, and hormonal and nutritional support. She subsequently remained stable, with no recurrence of convulsions over a 9-year follow-up period. Here, we expand upon the clinical manifestations of Cobb syndrome and propose mechanisms for the underlying pathogenesis. We hope that our experience can help avoid missed diagnoses and misdiagnosis and provide more clinical evidence for early diagnosis.
Case Report: Complex Congenital Brain Anomaly in a BBxHF Calf-Clinical Signs, Magnetic Resonance Imaging, and Pathological Findings
Authors: Neeltje J Veenema, Koen M Santifort, Nienke W Kuijpers, Anne Seijger, Peter R Hut
Journal: Front Vet Sci (2021)
Keywords: bovid, cerebellar ataxia, corpus callosum agenesis, hydrocephalus, porencephaly
MeSH terms: Case Reports

This case report describes the clinical signs, magnetic resonance imaging (MRI) findings and associated (histo)pathological findings in a crossbred Belgian Blue calf with congenital complex brain anomaly. The calf was presented with non-progressive signs (including cerebellar ataxia) since it was born, suggestive of a multifocal intracranial lesion. A congenital anomaly was suspected and after hematology, biochemistry, serology, and cerebrospinal fluid analysis, a magnetic resonance imaging study was performed. The following suspected abnormalities were the principal changes identified: severe hydrocephalus, porencephaly, suspected partial corpus callosum agenesis (CCA), and increased fluid signal between the folia of the cerebellum. Post-mortem examination predominately reflected the MRI findings. The origin for these malformations could not be identified and there was no evidence of a causative infectious agent. Corpus callosum abnormalities have been reported in bovids before and have been linked to bovine viral diarrhea virus (BVDV) infections, as have several other central nervous system anomalies in this species. In this case, BVDV was deemed an unlikely causative agent based on serology test results and lack of typical histopathological signs. The etiology of the congenital anomaly present in this bovine calf remains unknown.
The cortical step sign fails to prevent malrotation of a nailed femoral shaft fracture: a case report
Authors: Taranjit Tung, Ted Tufescu
Journal: Case Rep Orthop (2014)

Intramedullary nailing has become the treatment of choice for diaphyseal femur fractures. Malrotation is a well-recognized complication of femoral nailing. Various techniques including the cortical step sign (CSS) have been described to minimize iatrogenic rotational deformity during femoral nailing. We present a case in which the use of the CSS resulted in a clinically significant malrotation requiring revision.
PD-1 inhibitor-associated type 1 diabetes: A case report and systematic review
Authors: Cuiping Lin, Xuan Li, Yu Qiu, Zheng Chen, Jianping Liu
Journal: Front Public Health (2022)
Keywords: pd-1 inhibitors, camrelizumab, diabetes, immune checkpoint inhibitor, insulin
MeSH terms: Diabetes Mellitus, Type 1 / chemically induced, Diabetes Mellitus, Type 1 / diagnosis, Nivolumab / adverse effects, Case Reports, Systematic Review, Aged, Coma / chemically induced, Female, Humans, Immune Checkpoint Inhibitors, Immune Checkpoint Inhibitors, Nivolumab

Objective:
This study aimed to summarize the clinical characteristics of programmed death receptor 1 (PD-1) inhibitor-associated type 1 diabetes so as to improve the ability of clinicians to correctly diagnose and treat it.
Methods:
We reported a case of a 70-year-old woman with gastric cancer who developed hyperosmolar hyperglycemic coma during camrelizumab (a PD-1 inhibitor) treatment and was diagnosed with PD-1 inhibitor-associated type 1 diabetes. We conducted a systematic review of 74 case reports of type 1 diabetes associated with PD-1 inhibitor therapy published before June 2022.
Results:
The patient developed type 1 diabetes with hyperosmolar hyperglycemic coma after receiving camrelizumab chemotherapy for 6 months (9 cycles). We searched 69 English articles comprising 75 patients, all of whom had been treated with a PD-1 inhibitor (nivolumab or pembrolizumab) and progressed to diabetes after an average of 6.11 (1-28) cycles. Nivolumab combined with ipilimumab (a cytotoxic T lymphocyte-associated protein 4 inhibitor) had the shortest onset (4.47 cycles on average). A total of 76% (57/75) of patients developed diabetic ketoacidosis (DKA) at onset, and 50.67% (38/75) of patients had C-peptide <0.1 ng/mL. Most of the patients were tested for insulin autoantibodies, with a positive rate of 33.33% (23/69); of these, 86.96% (20/23) were tested for glutamate decarboxylase antibody and 46.67% (35/75) were tested for human leukocyte antigen (HLA). HLA-DR4 was the most common type.
Conclusions:
The progression of type 1 diabetes induced by PD-1 inhibitors is relatively rapid. Islet failure often occurs when detected, seriously endangering patients' lives. Patients treated with PD-1 inhibitors should closely monitor their plasma glucose level during treatment to detect, diagnose, and treat diabetes on time.
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios
Authors: Xiaoxia Wu, Le Huang, Caiqun Luo, Yang Liu, Jianmin Niu
Journal: Front Pediatr (2021)
Keywords: maged2, antenatal bartter's syndrome, case report, mutation, polyhydramnios
MeSH terms: Case Reports

Background: Polyhydramnios occurs frequently during pregnancy. Mutations in the MAGED2 gene can cause X-linked acute early-onset polyhydramnios with a severe but transient form of antenatal Bartter's syndrome. Case Presentation: Here, we report a new novel frameshift mutation c.733_734delCT (p. Leu245GlufsTer4) in the MAGED2 gene (NM_177433.1) that caused prenatal polyhydramnios, but did not cause polyuria after birth. Follow-up was conducted for 2 months, and the baby's growth and development were normal, without polyuria and renal impairment. In addition, we identified all individuals with MAGED2 mutations reported in the literature before March 2021. Conclusion: We report a new case with a novel variant of the MAGED2 gene that caused severe hydramnios but with a good result and summary clinical characteristics in a newborn with antenatal Bartter's syndrome caused by an MAGED2 mutation. Good prenatal diagnosis and genetic consultation can improve pregnancy monitoring and newborn management.
Small cell carcinoma of the appendix
Authors: Anna M O'Kane, Mark E O'Donnell, Rajeev Shah, Declan P Carey, Jack Lee
Journal: World J Surg Oncol (2008)
MeSH terms: Appendiceal Neoplasms / pathology, Carcinoma, Small Cell / secondary, Liver Neoplasms / secondary, Case Reports, Appendectomy / methods, Appendiceal Neoplasms / diagnostic imaging, Appendiceal Neoplasms / surgery, Carcinoma, Small Cell / diagnostic imaging, Carcinoma, Small Cell / surgery, Colectomy / methods, Colonoscopy, Diagnosis, Differential, Fatal Outcome, Female, Follow-Up Studies, Humans, Liver Neoplasms / diagnostic imaging, Liver Neoplasms / surgery, Middle Aged, Tomography, X-Ray Computed

Background:
An extrapulmonary small cell carcinoma is a rare condition. It has similar histological features to pulmonary small cell carcinoma and is equally aggressive.
Case presentation:
We present the case of a 60-year-old woman who presented with right upper quadrant pain. Computerised tomography revealed an appendiceal lesion and multiple liver metastases. Exploratory laparotomy and right hemicolectomy was performed with histopathological analysis confirming a primary small cell carcinoma of her appendix.
Conclusion:
This is the first reported case of a pure extrapulmonary carcinoma arising from the appendix.
A Case Report of Decompensated Cirrhosis of Liver with Sideroblastic Anemia
Authors: Mamun-Al Mahtab, Abdur Rahim, Sheikh Mohammad Noor-E-Alam, Faiz Ahmad Khandokar, Ahmed LutfulMubin, Salimur Rahman
Journal: Euroasian J Hepatogastroenterol (2015)
Keywords: liver cirrhosis, portal hypertension, sideroblastic anemia
MeSH terms: Case Reports

A 35-year-old man was admitted to hospital with severe anemia. Two years back, he had presented with bleeding esophageal varices and subsequently diagnosed as a case of chronic liver disease with portal hypertension. He was then treated with esophageal band ligation. He tested positive for hepatitis B surface antigen with HBV DNA levels of 4 × 106 copies/ml by PCR. His repeat endoscopy showed grade 1 esophageal varices with no evidence of recent or active bleeding. On further investigation, his bone marrow showed dimorphic erythroid hyperplasia with ring sideroblasts and diagnosis of sideroblastic anemia was made. Although rarely, it was suggested that as cirrhosis is a chronic process, it may cause nutritional deficiency, which in turn may lead to the development of anemia.
How to cite this article:
Al-Mahtab M, Rahim A, Noor-e-Alam SM, Khandokar FA, LutfulMubin A, Rahman S. A Case Report of Decompensated Cirrhosis of Liver with Sideroblastic Anemia. Euroasian J Hepato-Gastroenterol 2015;5(1):55-56.
A case of double gallbladder with adenocarcinoma arising from the left hepatic duct: a case report and review of the literature
Authors: Masahiro Kawanishi, Yukio Kuwada, Yutaka Mitsuoka, Shogo Sasao, Teruo Mouri, Eiichi Takesaki, Tadateru Takahashi, Kazuhiro Toyota, Tamaki Nakatani
Journal: Gastroenterol Res Pract (2010)
MeSH terms: Case Reports

Double gallbladder is a rare congenital biliary anomaly, but an accessory gallbladder arising from the left hepatic duct is a more remarkably rare congenital anomaly. We report a case of double gallbladder with adenocarcinoma and gallstones, which was preoperatively diagnosed by endoscopic retrograde cholangiopancreatography (ERCP) and then confirmed by open laparotomy. A review of the literature is presented.
A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
Authors: Jing Liu, Hao Hu, Na Ma, Zhengjun Jia, Yuchun Zhou, Jiancheng Hu, Hua Wang
Journal: Mol Cytogenet (2016)
Keywords: 9qter duplication, non-invasive prenatal testing, prenatal diagnosis, snp array, tof
MeSH terms: Case Reports

Background:
Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with 9qter duplications.
Case presentation:
A 23-year-old woman was referred for genetic counseling and prenatal diagnosis at 25(3/7) weeks of gestation due to her male fetus, diagnosed as Tetralogy of Fallot Syndrome (TOF) by prenatal ultrasound. SNP (Single nucleotide polymorphism) array revealed that the male fetus had a de novo 5.47 Mb duplication at 9q34.13-qter. Meanwhile, non-invasive prenatal testing (NIPT) using low coverage whole genome massively parallel sequencing of circulating cell-free fetal DNA (cffDNA) showed consistent results. Multiplex ligation-dependent probe amplification (MLPA) also confirmed the duplication at 9qter.
Conclusion:
In this paper, we present an Asian fetus with TOF caused by a de novo 5.47 Mb duplication at 9q34.13-qter. Duplication of 9q34.13-qter should be considered as an etiological diagnosis in the case of TOF. Our prenatal diagnostic findings provide important information for genetic counseling on the male fetus and future pregnancies in this family. Chromosomal microarray analysis (CMA) remains the first-tier clinical diagnostic test for prenatal fetus with suspicious syndromes. We also highlight the high potential application of NIPT in the screening of sub-chromosomal rearrangement.
Lumbar artery aneurysm complicated by a fistula between the aneurysm and the duodenum in a patient with Leriche syndrome: A case report
Authors: Toru Imagami, Masaki Sakamoto, Hisanori Kani, Masao Tadakoshi
Journal: Int J Surg Case Rep (2020)
Keywords: arterio-enteric fistula, leriche syndrome, lumbar artery aneurysm
MeSH terms: Case Reports

Introduction:
Various collateral pathways maintain blood flow to the lower extremities in patients with Leriche syndrome. The occurrence of true aneurysms in the lumbar artery-a component of an extensive collateral circulation network in patients with Leriche syndrome-is extremely rare.
Presentation of case:
A 73-year-old man with Leriche syndrome was diagnosed with lumbar artery aneurysm complicated by a duodenal fistula. The patient underwent endovascular repair, surgical duodenal fistula closure, and debridement of the aneurysm wall until coil exposure.
Discussion:
With the same mechanism, patients with aortic occlusive disease may develop an aneurysm and arterio-enteric fistula in the collateral circulation. Combination of treatments may be important for hemostasis, control of infection, and maintaining adequate distal perfusion.
Conclusion:
Endovascular embolization can control bleeding as well as serve as a landmark for the debridement of contaminated aneurysm. Surgical fistula closure and aneurysm-wall debridement are useful for control of local infection.
Case report: late perianal mucinous adenocarcinoma after Crohn's disease proctectomy: an oncological rarity
Authors: Michael Keese, Walter Back, Dietmar Dinter, Rainer Gladisch, Andreas Joos, Pablo Palma
Journal: World J Surg Oncol (2005)

Background:
As in ulcerative colitis, there is an increased incidence of colorectal carcinoma in Crohn's disease. While carcinoma formation originating from ano-rectal fistulas is generally considered as a rare event there are different publications reporting on mucinous adenocarcinoma formation in association with a neovagina and rectovaginal fistulas. To the best of our knowledge this is the first description of a perianal mucinous adenocarcinoma arising in a patient after Crohn's disease proctocolectomy.
Case presentation:
We report the case of a 50-year old female with a mucinous adenocarcinoma forming in the perineum eleven years after proctocolectomy for Crohn's disease. The patient was readmitted with perineal pain, leucocytosis and a perineal mass highly suspicious of abscess formation in the MRI-Scan. Histological examination revealed a mucinous adenocarcinoma. Exenteration including vagina, uterus and ovaries together with the coccygeal-bone was performed.
Conclusion:
Mucinous adenocarcinoma formation is a rare complication of Crohn's disease and so far unreported after proctocolectomy.
Diabetes mellitus with a duration of 26 years combined with IgA nephropathy: A case report and literature review
Authors: Yan-Li Gou, Ya-Pu Zhang, Yang Xu, Jian-Dong Li, Yang Huang, Hang Chen
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: iga nephropathy, case report, diabetes mellitus, diabetes mellitus combined with iga nephropathy, nephrology
MeSH terms: Diabetes Mellitus / pathology, Diabetic Nephropathies / complications, Diabetic Nephropathies / diagnosis, Glomerulonephritis, IGA / complications, Glomerulonephritis, IGA / diagnosis, Glomerulonephritis, IGA / pathology, Review, Case Reports, Research Support, Non-U.S. Gov't, Aged, China, Humans, Kidney / pathology, Male, Proteinuria / epidemiology, Proteinuria / etiology, Proteinuria / pathology

Background:
The incidence of diabetes mellitus (DM) in China is increasing yearly and has become a major problem plaguing national public health. The diagnosis of diabetic kidney disease (DKD) is based primarily on clinical criteria, and most patients do not receive a formal evaluation by renal biopsy; thus, misdiagnosis and underdiagnosis are common. The incidence of non-diabetic kidney disease (NDKD) is also higher in those with DM. To date, many cases of IgA nephropathy (IgAN) among those with DKD have been reported, while cases of IgAN in patients with long-duration DM who did not develop DKD are less commonly reported.
Case description:
A 70-year-old male patient with a diabetes duration of 26 years had proteinuria for one year. The clinical manifestations of nephrotic syndrome and IgAN were confirmed by renal biopsy. The patient received targeted treatment for three years with partial alleviation of proteinuria.
Conclusion:
Renal biopsy might aid in the definitive diagnosis of DKD, NDKD, and NDKD combined with DKD. Precise therapy based on renal pathology might help to improve outcomes in the kidney.
Inflammatory Nasal Swelling due to Leishmania tropica
Authors: Hajiba Fellah, Maryam Hakkour, Bouchra Delouane, Asmae Hmamouch, Abdelhakim Bouyahya, Faiza Sebti, Abderrahim Sadak
Journal: Case Rep Dermatol Med (2021)
MeSH terms: Case Reports

Since its discovery in the 19th century, cutaneous leishmaniasis has been a major public health problem, especially with the appearance of more and more unusual cases of cutaneous lesions due to this parasite. Indeed, the present study joins the previous studies and describes a typical case of a nasal lesion due to Leishmania infection. This is a 20-year-old young man, with no particular pathological history, from an epidemic focus who presented with inflammatory nasal swelling similar to a mucocutaneous form. However, the X-ray data showed that no lysis of the bones proper to the nose was detected and no damage to the underlying mucosa was observed. Nevertheless, the parasitological diagnosis confirmed the presence of amastigotes, and the results of the molecular study showed that the electrophoretic profile was comparable to that of L. tropica. After diagnosis and confirmation, treatment with meglumine antimonate at the rate of two ampoules/injection (one ampoule = 5 ml) of antimony salt for one month was administered intramuscularly with favorable outcome. Atypical forms of cutaneous leishmaniasis constitute a rare and unusual entity often leading to diagnostic delay. For this, the clinical examination must take into account both exceptional presentations of Leishmania infection, in particular in subjects living or having stayed in an endemic area, in order to ensure appropriate and early treatment.
Subcapsular Renal-Infected Hematoma After Retrograde Intrarenal Surgery: A Rare but Serious Complication
Authors: José A Salvadó, Lucas Consigliere, Hector Gallegos, Francisco Rojas, Gastón Astroza
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

We report a case of a 53-year-old woman affected by a left kidney stone and persistent positive urinary culture treated by retrograde intrarenal surgery. During postoperative day 1, she developed a sudden back pain associated with a decrease in hemoglobin. CT scan showed a subcapsular hematoma giving the impression of partial compression of kidney and upper urinary tract. For that reason, in the first instance, a Double-J ureteral stent was installed. Unfortunately, an open surgical drainage was necessary because a secondary infection of the hematoma was evident during the following days.