RESUMO
Wolfram syndrome [WFS] is a rare and complex genetic disorder referred to as DIDMOAD [diabetes insipidus, diabetes mellitus, optic atrophy and deafness]. All insulin dependent diabetic patients presented over a period of 10 years, who had optic atrophy or a positive family history of WFS, were enrolled in the study. Criteria for the diagnosis of WFS were the presence of insulin dependent diabetes mellitus [IDDM] along with optic atrophy unexplained by any other disease and/or some other abnormalities associated with WFS. WFS has been diagnosed in sixteen patients, 9 males and 7 females aged 5.5 to 22yr [median age of 13.4 yr]. Nine patients [more than half] came from consanguineous marriages. The earliest manifestation of WFS was IDDM [at a median age of 5.4yrs]. All patients developed non-autoimmune IDDM before the age of 8 years old. Only two cases were ketoacidotic. Common diabetic complications of proliferative retinopathy, glomerulosclerosis and neuropathy were remarkably absent in our patients even with long-lasting diabetes mellitus. Antidiuretic hormone [ADH]-responsive diabetes insipidus was confirmed by water deprivation test in 8 patients [50%]. The incidence of diabetes insipidus in our patients was lower compared to other studies. Growth retardation, as short stature and a weight below the 5th percentile for age and gender, was found in 13 [81%] and 5 [31%] patients respectively. Early diagnosis and proper treatment aimed at relieving the symptoms and preventing the future complications are of paramount value and importance