A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal
Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes mellitus, optic atrophy, and progressive neurodegeneration, often summarized by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We report a 27-year-old male with a history of diabetes mellitus, progressive visual loss leading to blindness, and bilateral sensorineural hearing loss. His family history was notable for diabetes-related mortalities and visual impairment in multiple members of the family. Clinical evaluation showed uncontrolled blood glucose level, optic atrophy, and high-frequency sensorineural hearing loss. A clinical diagnosis of Wolfram syndrome was made using the Euro-Wolfram, Alström, and Bardet-Biedl (WABB) criteria. Wolfram syndrome should be suspected in young patients with early-onset diabetes mellitus and visual or hearing impairment. This case report highlights the role of timely multidisciplinary management in preventing disease-related complications.
Authors
- Trushil Shah (ORCID: https://orcid.org/0000-0003-0204-1503)
- Richard Sidlow (ORCID: https://orcid.org/0000-0001-6242-8932)
- Panna Lal Sah
Institutions
- Children's Hospital Central California (US)
- Sukraraj Tropical & Infectious Disease Hospital (NP)
- National Academy of Medical Sciences (NP)
Publication Details
- Journal
- Cureus
- Published
- 2025-10-25
- DOI
- https://doi.org/10.7759/cureus.95410
- Primary Topic
- Endoplasmic Reticulum Stress and Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00