A Case of Wolfram Syndrome

Le résumé fourni par la source

ABSTRACT Wolfram syndrome (WS) is the inherited association of juvenile-onset insulin-dependent diabetes mellitus and progressive bilateral optic atrophy. We have identified a complete DIDMOAD syndrome. Bilateral papillary atrophy was found in optic fundoscopic examination. The diagnosis of diabetes insipidus was determined after a water deprivation test. Fasting serum insulin levels was 0.4uU/ml and serum C-peptide level was 0.2 ng/ml. Antibodies to islet cell (ICA) and anti-insulin antibodies were negative. In MRI of the patient the posterior pituitary bright spot was absent. Deafness was found in odiometric examination. The disease is believed to account for 1/150 patients with young-onset insulin-requiring diabetes mellitus. Interestingly we follow- up almost 450 patients with type 1 diabetes mellitus per year, but we determined a Wolfram syndrome at first time. In the literature WS were found 27 patients in 589 type 1 diabetic patients. Whereas in UK population syndrome is rare and its prevalence is estimated to be 1/ 770 000 people. As a result we can say that frequency of syndrome may show ethnic differences and may be rare in our region.

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