ISSN: 1301-2193 E-ISSN: 1308-9846
  • Turkish Journal of
    Endocrinology and Metabolism
CASE REPORT

A Case of Wolfram Syndrome - Case Report
A Case of Wolfram Syndrome - Case Report
Makale Dili: EN
ABSTRACT

Summary

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.
Keywords: Wolfram syndrome, optic atrophy, diabetes mellitus, diebetes insipidus and deafness

ÖZET

Summary

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.
Keywords: Wolfram syndrome, optic atrophy, diabetes mellitus, diebetes insipidus and deafness