A Case with Wolfram (DIDMOAD) Syndrome

Ozet Wolfram sendromu 1/770000 oraninda gorulen patogenezi tam olarak bilinme- yen otozomal resesif kalitimli, dismorfogenetik bir hastaliktir. DIDMOAD sendro- mu (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) olarak da isimlendirilen bu sendrom baslica diabetes insipitus, diabetes mellitus, optik at- rofi ve sagirlikla karakterizedir. Hastalar ilk olarak diabetes mellitus tanisi alir ve ardindan ilk onyilda optik atrofi, ikinci on yilda tabloya diabetes insipitus ve sen- sorinoral sagirlik eklenir. Daha sonra sirasiyla ucuncu on yilda uriner sistem ano- malileri ve dorduncu on yilda multipl norolojik anomaliler gorulur. Bu yazida, Wolf- ram sendromu tanisi konulup takip edilen 14 yasinda bir erkek hasta sunuldu. Olgu 9 yildir tip 1 diabetes mellitus tanisiyla izlenmekte iken, yapilan muayene ve la- boratuar tetkiklerinde norojen mesane, isitme ve gormede azalmanin eslik ettigi tespit edildi. Wolfram sendromu otozomal resesif gecis gosteren bir hastalik ol- dugundan, olgumuz, erken tani ve aile taramasinin oneminin vurgulanmasi ama- ciyla sunuldu. Abstract Wolfram syndrome, seen in 1/770000 of the population is an autosomal recessive dysmorphogenetical disease with unknown pathogenesis. It is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deaf- ness, and also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multip - le neurological abnormalities early in the fourth decade. We present a boy 14 ye- ars old who had been followed-up with the diagnosis of Wolfram syndrome in this article. He had been followed-up with juvenile-onset diabetes mellitus for 9 years. Physical and laboratory exam revealed neurogenic bladder, deafness and optic de- fect. We emphasize the importance of family screening regarding the early diag- nosis of Wolfram syndrome in the other individuals of the family since the disea- se shows an autosomal recessive inheritance.