OpenMed/multicare-articles huggingface dataset:
Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins
Authors: Shira London, Elisa De Franco, Ghadir Elias-Assad, Marie Noufi Barhoum, Clari Felszer, Marina Paniakov, Scott A Weiner, Yardena Tenenbaum-Rakover
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: glis3 mutation, congenital glaucoma, congenital hypothyroidism, neonatal diabetes, β-cell development
MeSH terms: Biomarkers / blood, Congenital Hypothyroidism / pathology, DNA-Binding Proteins / genetics, Diabetes Mellitus / pathology, Infant, Newborn, Diseases / pathology, Mutation, Repressor Proteins / genetics, Trans-Activators / genetics, Case Reports, Research Support, Non-U.S. Gov't, Blood Glucose / analysis, Child, Preschool, Congenital Hypothyroidism / etiology, Congenital Hypothyroidism / metabolism, Diabetes Mellitus / etiology, Diabetes Mellitus / metabolism, Female, Gene Expression Regulation, Humans, Infant, Newborn, Infant, Newborn, Diseases / etiology, Infant, Newborn, Diseases / metabolism, Male, Phenotype, Prognosis, Biomarkers, Blood Glucose, DNA-Binding Proteins, GLIS3 protein, human, Repressor Proteins, Trans-Activators

Background:
Mutations in GLIS3 cause a rare syndrome characterized by neonatal diabetes mellitus (NDM), congenital hypothyroidism, congenital glaucoma and cystic kidneys. To date, 14 mutations in GLIS3 have been reported, inherited in an autosomal recessive manner. GLIS3 is a key transcription factor involved in β-cell development, insulin expression, and development of the thyroid, eyes, liver and kidneys.
Cases:
We describe non-identical twins born to consanguineous parents presenting with NDM, congenital hypothyroidism, congenital glaucoma, hepatic cholestasis, cystic kidney and delayed psychomotor development. Sequence analysis of GLIS3 identified a novel homozygous nonsense mutation, c.2392C>T, p.Gln798Ter (p.Q798*), which results in an early stop codon. The diabetes was treated with a continuous subcutaneous insulin infusion pump and continuous glucose monitoring. Fluctuating blood glucose and intermittent hypoglycemia were observed on follow-up.
Conclusions:
This report highlights the importance of early molecular diagnosis for appropriate management of NDM. We describe a novel nonsense mutation of GLIS3 causing NDM, extend the phenotype, and discuss the challenges in clinical management. Our findings provide new areas for further investigation into the roles of GLIS3 in the pathophysiology of diabetes mellitus.
Use of indocyanine green near-infrared lymphography to detect sentinel lymph nodes in a dog with a malignant insulinoma: a case report
Authors: Mirja Christine Nolff, Renate Dennler, Matthias Dennler
Journal: Front Vet Sci (2023)
Keywords: functional neuroendocrine pancreatic tumor, lymphadenectomy, pancreatic lymph node mapping, sentinel node mapping, staging malignant melanoma
MeSH terms: Case Reports

Malignant insulinoma is the most common type of neuroendocrine tumor found in the pancreas of dogs. Canine insulinoma displays malignant behavior with a high rate of metastasis. The most common sites of metastases are the draining lymph nodes, which are also the primary location sites for the recurrence of functional disease. However, identifying metastatic nodes can often be complicated, as the pancreas is drained by numerous lymphatic centers, and clinical enlargement or structural changes may not always be present in metastatic nodes. Additionally, unaltered nodes are frequently small (a few millimeters) and can be hard to distinguish from the surrounding tissues. Therefore, lymphadenectomy is generally recommended for affected dogs. Unlike in human medicine, there are currently no established strategies for lymph node resection in dogs with malignant insulinoma. This report presents a technique for identifying and removing sentinel nodes using indocyanine green and near-infrared lymphography (NIRFL) during surgery. A total of six sentinel nodes were detected and resected with this method. This technique could provide a more structured approach for lymph node resection in affected dogs and potentially in humans in the future. However, its therapeutic benefits must be evaluated in a larger cohort of cases.
Delirious Mania Associated with Autoimmune Gastrothyroidal Syndrome of a Mid-Life Female: The Role of Hashimoto Encephalopathy and a 3-Year Follow-Up including Serum Autoantibody Levels
Authors: Udo Bonnet, Claudia Selle, Ralf Kuhlmann
Journal: Case Rep Psychiatry (2016)

We report the case study of a 57-year-old Caucasian female with steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), commonly termed Hashimoto encephalopathy (HE). This presentation includes one of the longest lasting follow-up studies of HE considering the neuropsychiatric symptoms (here delirium, mania, and EEG-slowing) and their relation to serum autoantibody levels. Antithyroid-peroxidase autoantibodies, the hallmark of autoimmune thyroiditis, were found in the serum and also in the cerebrospinal fluid. Diagnostic analyses found no evidence of limbic encephalopathies characterized by serum antibodies against intracellular, synaptic, or further cell surface antigenic targets, neoplasm, and connective tissue or vasculitis diseases. A potential contribution of bipolar disorder and metabolic encephalopathies due to severe hypothyroidism, glucocorticoid treatment, accelerated thyroid hormone replacement therapy, or vitamin B deficiency is critically discussed. Another special feature of this case report is the linkage of HE to an autoimmune polyendocrine syndrome (type 3B) affecting the gastroduodenum in addition to the thyroid gland.
Masson's Tumor of the Hand: An Uncommon Histopathological Entity
Authors: Parviz Mardani, Amir Askari, Reza Shahriarirad, Keivan Ranjbar, Amirhossein Erfani, Mohammad Hossein Anbardar, Shirin Moradmand
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

Masson's tumor or Masson's hemangioma, more precisely termed intravascular papillary endothelial hyperplasia (IPEH), is an uncommon benign vascular lesion of the skin and subcutaneous tissues which can be frequently confused with angiosarcoma. Although relatively rare, its accurate diagnosis is essential since it can clinically be similar to both benign and malignant lesions. We present a 39-year-old man with a round bulging arising from the left palm side of the hand with gradual growth in the last 5 months and on and off tenderness. The microscopic section demonstrated the papillary proliferation of endothelial cells in favor of Masson's hemangioma, which was sufficiently treated with excision alone.
Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report
Authors: Jingqi Liu, Yudi Zhang, Xiaochuan Wu, Yongzhen Li
Journal: Front Pediatr (2023)
Keywords: bartter syndrome, chronic kidney disease, glomerular dysplasia, hypokalemia, metabolic alkalosis
MeSH terms: Review

Background:
Bartter syndrome (BS) type III is a rare autosomal recessive genetic disease. Its clinical features are polyuria, hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninaemia. A few BS type III can be complicated with chronic kidney disease.
Case presentation:
We report a 14-year-old boy with Bartter syndrome caused by a c.1792C > T (p.Q598*) mutation in the CLCNKB gene. He was a no deafness and full-term baby, and he had renal dysplasia and chronic kidney disease (CKD). In addition, we summarize all cases of BS type III complicated with CKD.
Conclusions:
We report a case of Bartter syndrome complicated by chronic kidney disease caused by a new mutation of CLCNKB. As we all know, BS type IV is usually combined with chronic kidney disease, and BS type III can also integrate with CKD. We don't find BS type III with glomerular dysplasia in the literature. So renal damage in BS type III is not only FSGS; clinicians must also be aware of glomerular dysplasia.
Primary Angiitis of the Center Nervous System: A Clinical Challenge Diagnosed Postmortem
Authors: Bayan Al Share, Ali Zakaria, Evan Hiner, Ziyad Iskenderian, Nader Warra
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Primary angiitis of the central nervous system (PACNS) is a rare vasculitis involving medium and small blood vessels of the brain, spinal cord, and meninges, without systemic involvement. The diffuse and patchy nature of its pathology is reflected by a wide spectrum of nonspecific clinical symptoms. Diagnosis is challenging due to lack of defined clinical criteria or specific imaging findings. Specific workup should be done only after exclusion of other etiologies, including infectious, neoplastic, toxic, and other vascular etiologies including systemic vasculitis. Given the fact that it is a patchy disease with 25% of the biopsies being falsely negative, treating physician should have a high index of suspicion despite negative initial neurovascular imaging and biopsy results. Once diagnosed, early treatment with immunosuppressive therapy is essential to avoid permanent neurologic damage. Herein, we are reporting a case of 66-year-old female patient who presented with insidious onset right-sided frontal headache. Her hospital course progressively worsened and family decision based on her wishes was to refer her to hospice and comfort care. Despite an extensive workup with advanced imaging techniques, no diagnosis was established until postmortem autopsy and histopathology confirmed primary angiitis of the central nervous system.
Ovarian goiter detected during post-operative follow-up of papillary thyroid cancer: a case report
Authors: Daisuke Murayama, Soji Toda, Yoichiro Okubo, Hiroyuki Hayashi, Hiroyuki Iwasaki
Journal: J Surg Case Rep (2023)
MeSH terms: Case Reports

A 70-year-old female without any past medical history underwent total thyroidectomy and central neck dissection for papillary thyroid cancer (PTC) (pT3bN1aM0 pStage II). Her post-operative thyroglobulin (Tg) level remained high (around 100 ng/mL), which increased to 366 ng/mL 5 years after surgery. Computed tomography revealed metastasis to the left III and right Vb and VI lymph nodes and an incidental ovarian tumor. Transvaginal ultrasonography and magnetic resonance imaging suspected malignancy, resulting in total hysterectomy and bilateral adnexal resection. A pathological diagnosis of ovarian goiter with no malignancy was then established. For lymph node metastasis of PTC, right neck dissection and left III lymph node resection were performed. Post-operative blood examination showed a significant decrease in the Tg level (5.9 ng/mL). In conclusion, systemic imaging or I-131 remnant ablation should be performed after total thyroidectomy, as evident in the present case in which Tg levels did not decrease after total thyroidectomy.
Anomalous left main coronary artery: case series of different courses and literature review
Authors: Adam T Marler, Jamil A Malik, Ahmad M Slim
Journal: Case Rep Vasc Med (2013)

Background. Congenital anomalies of the coronary arteries are a cause of sudden cardiac death. Of the known anatomic variants, anomalous origination of a coronary artery from an opposite sinus of Valsalva (ACAOS) remains the main focus of debate. Case Series. We present three cases, all presenting to our facility within one week's time, of patients with newly discovered anomalous origination of the left coronary artery from the right sinus of Valsalva (L-ACAOS). All patients underwent cardiac computed tomography for evaluation of coronary anatomy along with other forms of functional testing. Despite the high risk nature of two of the anomalies, the patients are being treated medically without recurrence of symptoms. Summary. After review of the literature, we have found that the risk of sudden cardiac death in patients with congenital coronary anomalies, even among variants considered the highest risk, may be overestimated. In addition, the exact prevalence of coronary anomalies in the general population is currently underestimated. A national coronary artery anomaly registry based on cardiac computed tomography and invasive coronary angiography data would be helpful in advancing our understanding of these cardiac peculiarities. The true prevalence of congenital coronary anomalies and overall risk of sudden cardiac death in this population are not well known. Surgical intervention remains the mainstay of therapy in certain patients though recent investigations into the pathophysiology of these abnormalities have shown that the risk of surgery may outweigh the minimal reduction in risk of sudden cardiac death.
Supernumerary Heterotopic Hemicerebellum: A Rare Case of an Accessory Mass in the Posterior Fossa
Authors: Bert Verberckmoes, Caroline Vande Walle, Nele Herregods
Journal: J Belg Soc Radiol (2022)
Keywords: brain mri, congenital malformations, hindbrain, pontine-medullar boundary, posterior fossa malformations, supernumerary heterotopic hemicerebellum
MeSH terms: Case Reports

Teaching Point: A supernumerary heterotopic hemicerebellum is a rare congenital posterior fossa abnormality that should not be confused with tumor.
Sacral Giant Cell Tumor Presenting as Low Back Pain in the Chiropractic Office: A Case Report
Authors: Eric C Chu, Robert J Trager, John S Shum, Kenny K Ng
Journal: Cureus (2023)
Keywords: chiropractic, giant cell tumors, low back pain, neoplasms, radiculopathy, sacrum
MeSH terms: Case Reports

Sacral giant cell tumors are a rare cause of low back pain and may be challenging to identify via routine clinical examination and radiography. A 47-year-old woman presented to a chiropractor with a one-month history of worsening low back pain with radiation to the posterior thighs, worsened with ambulation, and used a cane to walk. She previously saw an orthopedic surgeon and was diagnosed with lumbar spondylosis, having tried anti-inflammatory medications, exercises, and acupuncture without success. The chiropractor ordered lumbar magnetic resonance imaging which revealed an aggressive sacral lesion and referred the patient to an oncologist. The oncologist performed positron emission tomography/computed tomography and biopsy, confirming a sacral giant cell tumor. A surgical team recommended tumor resection, lumbosacral fusion, radiotherapy, and zoledronic acid infusion. Sacral giant cell tumors are rare and may be challenging to identify via routine radiography. These tumors are an important differential to consider for patients with unexplained lumbosacral symptoms unresponsive to care.
Comorbidity of inflammatory bowel disease with atypical hemolytic uremic syndrome in pediatric patients
Authors: H Stella Shin, Carla M Nester, Bradley P Dixon
Journal: Clin Nephrol Case Stud (2019)
Keywords: atypical hemolytic uremic syndrome, complement, inflammatory bowel disease
MeSH terms: Case Reports

Atypical hemolytic uremic syndrome (aHUS) is a form of thrombotic microangiopathy mediated by dysregulation of the alternative complement pathway. Complement-amplifying conditions such as respiratory and gastrointestinal infections, pregnancy, malignancy, and systemic autoimmune diseases such as systemic lupus erythematosus have been associated with the clinical manifestation of aHUS. Inflammation of the gastrointestinal tract is a potent stimulus for complement activation, and we describe a series of three pediatric patients with aHUS and comorbidity of inflammatory bowel disease (IBD). In two of the three cases, the diagnosis of aHUS preceded the diagnosis of IBD, perhaps suggesting a mechanistic link between complement dysregulation and thrombotic microangiopathy in the gastrointestinal tract and the ensuing inflammatory changes of IBD.
Langerhans cell histiocytosis of the sternum
Authors: Hiroyuki Tsuchie, Kyoji Okada, Hiroyuki Nagasawa, Michihiro Yano, Hiroshi Nanjyo, Yoichi Shimada
Journal: Ups J Med Sci (2009)
MeSH terms: Histiocytosis, Langerhans-Cell / diagnosis, Sternum / pathology, Case Reports, Chest Pain, Child, Female, Histiocytosis, Langerhans-Cell / diagnostic imaging, Histiocytosis, Langerhans-Cell / drug therapy, Humans, Magnetic Resonance Imaging, Sternum / diagnostic imaging, Tomography, X-Ray Computed

We report a rare case of Langerhans cell histiocytosis involving the sternum. The patient was a 12-year-old girl presenting with anterior chest pain and swelling. Radiographs and computed tomography showed an osteolytic lesion in the sternum. Technetium bone scintigraphy revealed increased uptakes in the sternum, the greater trochanter of the right femur, and the right distal tibia. Incisional biopsy for the sternum lesion was performed, and the histopathologic diagnosis was Langerhans cell histiocytosis. She was treated with chemotherapy and the symptoms disappeared.
A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy
Authors: Junfeng Zhou, Hui Li, Xiangping Li, Yonggui Li, Mei Yang, Gaoxing Shi, Danyan Xu, Xiaoliu Shi
Journal: Brain Behav (2019)
Keywords: emd gene, x-linked emery-dreifuss muscular dystrophy, conduction cardiomyopathy, novel mutation, predominant cardiac phenotype
MeSH terms: Cardiac Conduction System Disease / diagnosis, Cardiac Conduction System Disease / etiology, Cardiomyopathies / genetics, Membrane Proteins / genetics, Muscular Dystrophy, Emery-Dreifuss / diagnosis, Muscular Dystrophy, Emery-Dreifuss / genetics, Nuclear Proteins / genetics, Case Reports, Asian People, Cardiomyopathies / complications, Cardiomyopathies / diagnosis, Cardiomyopathies / physiopathology, Echocardiography / methods, Family, Female, Humans, Male, Middle Aged, Muscle, Skeletal / pathology, Mutation, Membrane Proteins, Nuclear Proteins, emerin

Introduction:
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary myopathy characterized as triad of muscular dystrophy, joint contractures, and conduction cardiomyopathy. In this study, we diagnosed a X-linked recessive EDMD patient with severe conduction cardiomyopathy while noteless muscular and joint disorders.
Methods:
A Chinese cardiomyopathy family spanning four generations was enrolled in the study. Targeted next-generation sequencing (NGS) was performed to identify the underlying mutation in the proband and validated by Sanger sequencing. Segregation analysis was applied to all 13 participants.
Results:
A novel frameshift mutation (c.253_254insT, p.Y85Lfs*8) of emerin gene (EMD) was found and co-segregated with family members. Other than the typical manifestations of X-linked EDMD, this patient presented inconspicuous muscular disorders which were later diagnosed after the mutation been identified.
Conclusions:
This study enriches the EMD gene mutation database and reminds us of the possibility of EDMD while encountering patients with severe heart rhythm defects or dilated cardiomyopathy of unknown etiology, even if they have neither obvious skeletal muscle disorder nor joint involvement.
Aseptic meningitis with urinary retention: a case report
Authors: Fotinie Ntziora, Aristidis Alevizopoulos, Kostas Konstantopoulos, Sofia Kanellopoulou, Dimitrios Bougas, Konstantinos Stravodimos
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Introduction. Aseptic meningitis is serious inflammation of the meninges caused by agents including viruses, non-viral pathogens, non-infectious conditions and chemicals. Case Presentation. This study concerns the case of a 16-year-old healthy Greek female with persistent fever, mild headache and acute urinary retention, secondary to aseptic meningitis. Physical examination revealed no distinct signs of meningeal irritation. The urinary bladder was palpable, painless and over-distended. Serology carried out for common viruses was as follows: CMV IgG (-), CMV IgM (-), HSV IgG (-), HSV IgM (+), VZ IgG (+), VZ IgM (-), EBV IgG (-) and EBV IgM (+). During recovery in hospital, three trials of removing a urinary catheter were carried out; during the first two attempts the patient was unable to urinate and had a loss of bladder sensation. On the third attempt the patient had modest bladder perception but she left a post-voiding residual, and was instructed to perform bladder self-catheterization. Seven days after being discharged the patient underwent a full recovery. Conclusion. There are few reports concerning aseptic meningitis together with acute urinary retention. A number of these cases concern so-called "meningitis-retention syndrome," which implies an underlying CNS mechanism, while others concerned an underlying peripheral nervous system mechanism.
Detection of Acute Pulmonary Embolism by Bedside Ultrasound in a Patient Presenting in PEA Arrest: A Case Report
Authors: Hangyul Chung-Esaki, Roneesha Knight, Jeanne Noble, Ralph Wang, Zlatan Coralic
Journal: Case Rep Emerg Med (2012)
MeSH terms: Case Reports

Optimal management of the critically ill patient in shock requires rapid identification of its etiology. We describe a successful application of an emergency physician performed bedside ultrasound in a patient presenting with shock and subsequent cardiac arrest. Pulmonary embolus was diagnosed using bedside echocardiogram and confirmed with CTA of the thorax. Further validation and real-time implementation of this low-cost modality could facilitate the decision to implement thrombolytics for unstable patients with massive pulmonary embolism who cannot undergo formal radiographic evaluation.
Small residual patent ductus arteriosus after surgical ligation in young adult: to close or not to close - a dilemmatic case report
Authors: Alexander Edo Tondas, Rido Mulawarman, Monica Trifitriana, Moza Guyanto, Raymond Pranata, Komaria
Journal: Pan Afr Med J (2021)
Keywords: ligation, case report, occluder, patent ductus arteriosus, residual
MeSH terms: Cardiac Catheterization / methods, Ductus Arteriosus, Patent / surgery, Septal Occluder Device, Case Reports, Adult, Humans, Ligation, Male, Prosthesis Design, Treatment Outcome

Percutaneous transcatheter closure has gained acceptance for patent ductus arteriosus (PDA) management ever since its introduction, including the management residual left-to-right shunts following surgical ligations. It is preferred than the more invasive surgical closure. While large PDA is closed to prevent heart failure, the decision to close a small hemodynamically insignificant PDA is still a debatable issue. We present a case of percutaneous transcatheter closure of small residual left-to-right shunt PDA using HeartR™ Lifetech PDA occluder with instantaneous closure in an asymptomatic adult patient. The justification of closure was made based on the previous history of infective endocarditis, followed by PDA ligation and endarterectomy surgery, at 1.5 year before admission.
A Rare Case of Infantile Cortical Hyperostosis (ICH) of the Bilateral Tibia or Caffey Disease
Authors: Hard Tilva, Ankita Kanjiya, Roshan Umate, Mayur B Wanjari, Suhas Tivaskar
Journal: Cureus (2023)
Keywords: anterior cortex, caffey disease, collagenopathy, infantile cortical hyperostosis, tibia
MeSH terms: Case Reports

An inflammatory collagenopathy of infancy characterized by subperiosteal bone hyperplasia is known as infantile cortical hyperostosis (ICH) or Caffey disease. A 10-day male infant presented to the hospital with leg swelling, excessive crying, and irritability since birth. He was born with the swallowed part of his tibia bone. The X-ray suggested hyperostosis of the bilateral tibia bone involving the anterior cortex, which is more prominent on the right side. The infant was clinically monitored and treated and discharged after the swelling was reduced. Again, he was admitted to the hospital at 10 weeks of life, and a similar thickening appeared on his left tibia. He was administered analgesics and non-steroidal anti-inflammatory drugs (NSAIDs) and discharged under a follow-up schedule. The infant was monitored in the pediatric ward for the next seven days. The swelling and pain completely subsided one and a half weeks after hospitalization, and continued follow-up was suggested until the complete correction of the disease on an outpatient basis. This disease must be recognized and understood, and the clinical-radiological correlation is significant.