Endocrine Abstracts

Introduction: Wolfram Syndrome is a rare autosomal recessive progressive neurodegenerative disorder with estimated prevalence of 1 in 500,000 r, also known as DIDMOAD syndrome for its four most common features (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness). Patients present with nonautoimmune and non-HLA linked diabetes mellitus associated with optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, renal tract abnormalities early in the third decade and multiple neurological abnormalities, like cerebellar ataxia, myoclonus, and psychiatric illness early in the fourth decade.

Case report: An 8 years old boy was diagnosed with type 1 diabetes with ketosis on presentation and treated with insulin. However, upon diabetes compensation polydipsia and polyuria continued and the following week diabetes insipidus was diagnosed. MRI of the brain was only significant for posteriorarachnoid cyst 1.5×2.5×1.7 cm between the cerebellar hemispheres. Genetic analysis for Wolfram syndrome was not available at that time, therefore patient underwent annual optic nerve funduscopy, audiometry and ultrasound of the urinary tract. After 5 years, he developed hearing loss and early signs of macular atrophy, as well as ureteral dilation. Finally, genetic analysis was abroad and WFS1 gene mutation was identified.

Conclusion: Taking into account that in some countries genetic analysis for Wolfran Syndrome may not be readily available, annual survey for all the components of the syndrome is recommended. This is especially important in atypical and fast progressing cases of Wolfram syndrome.