Endocrine Abstracts

Background: Wolfram syndrome is an autosomal recessive neurodegenerative disease. It is secondary to the mutation of WFS1 gene. It combines a tetrad of pathologies known also as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness).

Case presentation: We report a case of 31-year-old women with medical history of type 1 diabetes since the age of 3 years old. She suffered from decreased visual acuity since the age of 5 years old and the ophthalmological examination showed an advanced bilateral optic atrophy with no signs of diabetic retinopathy. She experienced many episodes of urinary tract infections and urologic examination and ultrasound findings were consistent with a neurogenic bladder. She recently consulted for polyuria and polydipsia and the dehydration test confirmed the diagnosis of diabetes isipidus. The diagnosis of Wolfram syndrome was highly suspected and a genetic study was done searching for the WFS1 mutation.

Conclusion: Wolfram syndrome should be considered in patients with diabetes mellitus and optic atrophy, which are the first signs of the disease. The condition should be evaluated in a multidisciplinary manner and specific tests are necessary to make a precise diagnosis and disclose all components of the syndrome in order to improve patients’ prognosis.