Juvenile diabetes and visual impairment: Wolfram syndrome

The presence of diabetes and visual impairment in a young individual is a good diagnostic criterion to suspect Wolfram syndrome (WS) or Diabetes insipidus, Diabetes mellitus, optic atrophy and deafness.1,2 WS is a rare autosomal recessive disease due to mutations in the Wolframin (WFS1) gene. These mutations lead to endoplasmic reticulum stress-related decline of pancreatic beta-cell number and a decrease in endogenous insulin secretion. Affected individuals are therefore usually insulin-dependent, with a few rare exceptions reported.3 –5 Here we describe a 9-year-old boy who presented with visual impairment and diabetes, with a novel homozygousWFS1 frameshift mutation p.(Ala671fs) confirming WS. This patient has a normal endogenous insulin level necessitating a very low total daily insulin requirement for good glycaemic control.
Source: QJM - Category: Internal Medicine Source Type: research