WOLFRAM SYNDROME, CLINICAL AND GENETIC ASPECTS. CASE REPORT
Abstract:
Wolfram’s Syndrome (WS) is a genetic disorder that is frequently seen in affected individuals
as juvenile onset diabetes and optic atrophy, along with diabetes insipidus and deafness. It affects one in
20 million people from the United States, about one in 770 000 inhabitants or 1 in 500 000 children in
the United Kingdom. Wolfram’s Syndrome, also called DIDMOAD (DI-diabetes insipidus, DM-diabetes
mellitus, OA-optic atrophy, D- deafness) registered only 3 cases in Romania in the past 12 years. The
purpose of this presentation is to reveal the diagnostic difficulties in a case of suspected DIDMOAD
syndrome, no family history of WS, diabetes or deafness
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