Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease—A Case Report [PDF]
Clinical Case ReportsWolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD).
Sushrut Ingawale +4 more
doaj +3 more sources
Neurogenic diabetes insipidus presenting in a patient with subacute liver failure: a case report [PDF]
Journal of Medical Case Reports, 2010 Introduction To the best of our knowledge, this is the first report in the literature of development of neurogenic diabetes insipidus in a patient with subacute liver failure.
O'Beirne James +5 more
doaj +8 more sources
Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency [PDF]
JIMD ReportsGABA‐transaminase (GABA‐T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the ABAT gene.
Deima Alammary +8 more
doaj +3 more sources
Wolfram syndrome: A case report [PDF]
Chronic Diseases Journal, 2014 Wolfram syndrome (WFS) is a rare disease inherited as an autosomal dominant trait. Type I diabetes mellitus and optic atrophy are the main symptoms of the disease.
Alireza Eskandarifar +4 more
doaj +3 more sources
The Journal of ExtraCorporeal Technology, 2023 The following case report analyses a patient with extracorporeal membrane oxygenation (ECMO), who suffered from a severe Acute Respiratory Distress Syndrome (ARDS) due to COVID-19 pneumonia.
Samaniego-Segovia Bruno +8 more
doaj +3 more sources
Case Report: When an unknown fever unmasks Erdheim-Chester disease: a case showing the use of multimodality imaging and the successful interferon alpha therapy. [version 2; peer review: 2 approved] [PDF]
F1000ResearchBackground Erdheim-Chester disease (ECD) is an extremely rare histiocytic neoplasm with a highly variable and often unpredictable clinical course and prognosis.
Hajer Boudriga +8 more
doaj +2 more sources
A Case of Wolfram Syndrome [PDF]
Journal of Ophthalmic & Vision Research, 2010 Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both
Gholamali Naderian +3 more
doaj +4 more sources
Hypokalemic Periodic Paralysis Developed in a Patient with Neurogenic Diabetes Insipidus [PDF]
Journal of the Korean Neurological Association, 2021 Hypokalemic periodic paralysis one of the channelopathy disorders with low serum potassium level, clinically presenting as acute onset extremity weakness. In most cases, the cause of the hypokalemia is familial, but rarely hypokalemic periodic paralysis occurs secondary to other diseases including endocrinopathies, renal disorders, gastrointestinal ...
Jihyeon Hwang +6 more
openaire +1 more source
Central Diabetes Insipidus in an Extremely-Low-Birth-Weight Preterm Infant with Suspected Ectopic Posterior Lobe of the Pituitary Gland [PDF]
Neonatal Medicine, 2020 Central diabetes insipidus (CDI) is extremely rare in neonates, especially in extremely-low-birth-weight infants, and most cases are secondary to conditions, such as ischemic or hemorrhagic brain damage.
Yung Zu Park +5 more
doaj +1 more source
A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man [PDF]
AACE Clinical Case Reports, 2021 Diabetes insipidus (DI) can be classified into 2 types: central/neurogenic DI and nephrogenic DI. Most cases of central DI occur after brain surgery, trauma, tumor, or infection. Here we report a rare case of familial central DI due to a heterozygous AVP gene mutation.A case of familial neurogenic DI has been described with thorough clinical ...
Van T.T. Phan, MD +4 more
openaire +3 more sources