# A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal

## TL;DR

A 27-year-old man from Nepal is diagnosed with Wolfram syndrome, a rare genetic disorder marked by diabetes, vision loss, and hearing impairment.

## Contribution

This case report adds a rare clinical example of Wolfram syndrome in a young adult from Nepal.

## Key findings

- The patient exhibited diabetes mellitus, optic atrophy, and sensorineural hearing loss consistent with Wolfram syndrome.
- Family history revealed diabetes-related issues and visual impairment in multiple relatives.
- Clinical diagnosis was confirmed using the WABB criteria.

## 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.