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Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.

Medicina (Kaunas, Lithuania) - 28 Jun 2024

Jurca Alexandru Daniel, Galea-Holhos Larisa Bianca, Jurca Aurora Alexandra, Atasie Diter, Petchesi Codruta Diana, Severin Emilia, Jurca Claudia Maria

Abstract excerpt

Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM), progressive optic atrophy (OA), diabetes insipidus (DI), and sensorineural deafness (D), often referred to by the acronym DIDMOAD. It is a severe neurodegenerative...

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Identifiers

PMID: 39064493
DOI: 10.3390/medicina60071064
PMCID: PMC11278941

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Source receipt: pubmed, retrieved 7 Sept 2026.

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