Category: Wolfram syndrome

There’s More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient

J Med Cases. 2023 Jul;14(7):265-269. doi: 10.14740/jmc4128. Epub 2023 Jul 31. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative and genetic disorder, also known by the synonym DIDMOAD, which stands for diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), optic atrophy (OA), and deafness (D). We present a case of a 25-year-old diabetic patient, using insulin […]

WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India

J Clin Endocrinol Metab. 2022 Apr 19;107(5):1328-1336. doi: 10.1210/clinem/dgac002. ABSTRACT CONTEXT: Wolfram syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness, and progressive neurodegeneration. However, due to the progressive nature of the disease and a lack of complete clinical manifestations, a confirmed diagnosis of WFS at the […]

Recurrent Urinary Tract Infection in Young Diabetics: Reason to Look Beyond the Pancreas!

Saudi J Kidney Dis Transpl. 2021 Jul-Aug;32(4):1176-1179. doi: 10.4103/1319-2442.338295. ABSTRACT Wolfram syndrome (WFS) is a rare autosomal recessive disorder which manifests with diabetes mellitus, diabetes insipidus (DI), optic atrophy, and deafness. Central DI is a late presentation of the disease which may rarely present with renal tract anomalies and recurrent urinary infections instead of classical […]

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus

Int J Environ Res Public Health. 2022 Feb 21;19(4):2473. doi: 10.3390/ijerph19042473. ABSTRACT Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described […]

Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models

Sci Transl Med. 2022 Feb 9;14(631):eabh3763. doi: 10.1126/scitranslmed.abh3763. Epub 2022 Feb 9. ABSTRACT The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with life-threatening consequences; currently, no treatment is available. The disease is caused by mutations in the WSF1 gene, coding for the protein wolframin, an endoplasmic reticulum (ER) transmembrane protein involved […]

Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

Int J Environ Res Public Health. 2022 Jan 12;19(2):835. doi: 10.3390/ijerph19020835. ABSTRACT BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary […]

Metabolic Treatment of Wolfram Syndrome

Int J Environ Res Public Health. 2022 Feb 27;19(5):2755. doi: 10.3390/ijerph19052755. ABSTRACT Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosensorial deafness, diabetes insipidus) may be present in an […]

Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump

AACE Clin Case Rep. 2023 May 6;9(4):125-127. doi: 10.1016/j.aace.2023.05.002. eCollection 2023 Jul-Aug. ABSTRACT BACKGROUND/OBJECTIVE: Wolfram syndrome (WS) is a rare genetic disorder, in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, which has no specific treatment available. Here, we report 2 brothers treated with an insulin pump to manage the alterations […]