A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal
Publication: cureus.com | Publication Date: 25 October 2025
Authors: Tej P. Shah, Richard Sidlow, Prem K. Sah
Abstract
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.
Introduction
Wolfram syndrome is an autosomal recessive disorder characterized by early-onset diabetes mellitus, optic atrophy, and progressive neurodegeneration, including deafness. Wolfram and Wegener first described this disease in 1938; four of the eight siblings presented with both diabetes and optic atrophy [1,2]. Other abnormalities associated with the Wolfram syndrome include genitourinary abnormalities, cerebellar ataxia, brainstem dysfunction, and epilepsy [3].
The prevalence of Wolfram syndrome is approximately one in 770,000 in the United Kingdom and one in 100,000 in North America [4]. Genetic testing distinguishes optic atrophy from other causes of juvenile optic atrophy [5].
We are reporting a case of Wolfram Syndrome in a young adult male from Nepal, diagnosed clinically using the Euro-Wolfram, Alström, and Bardet-Biedl (WABB) criteria [6].
Shah T P, Sidlow R, Sah P K. A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal. October 25, 2025; https://www.cureus.com/articles/416445-a-rare-case-of-wolfram-syndrome-in-a-27-year-old-male-from-nepal#!/ Retrieved October 28, 2025.