Wolfram’s syndrome, a genetic disease with recessive autosomal transmission, associates early-onset diabetes mellitus with bilateral optic atrophy.It results from a mutation of the WFS1 gene with some genetic heterogeneity.

This case report is about a 47 year-old man in whom Wolfram’s syndrome was diagnosed because of Type I diabetes diagnosed at the age of 6 and bilateral optic atrophy. In addition, the patient presented with ataxia and bilateral horizontal nystagmus. MRI showed pronounced atrophy of the brain stem and cerebellum.

Wolfram’s syndrome is rare, usually leading to death before the age of 50. The diagnosis should be considered when juvenile diabetes mellitus is associated with optic atrophy particularly when other disorders are also present: ataxia, deafness, diabetes insipidus, neuropsychiatric symptoms and urinary tract dysfunction. A genetic study should always be carried out to confirm clinical suspicions.

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