Wolfram Syndrome: Endocrinological Features in a Case Series Study and Review of the Literature

Objective: Wolfram syndrome (WFS) is a rare and complex genetic disorder referred to asDIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).Material Methods: All insulin dependent diabetic patients presented over a period of 10years, who had optic atrophy or a positive family history of WFS, were enrolled in thestudy. Criteria for the diagnosis of WFS were the presence of insulin dependent diabetesmellitus (IDDM) along with optic atrophy unexplained by any other disease and/or some otherabnormalities associated with WFS.Findings: 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 patientsdeveloped non-autoimmune IDDM before the age of 8 years old. Only two cases wereketoacidotic. Common diabetic complications of proliferative retinopathy, glomerulosclerosisand neuropathy were remarkably absent in our patients even with long-lasting diabetes mellitus.Antidiuretic hormone (ADH)-responsive diabetes insipidus was confirmed by water deprivationtest in 8 patients (50%). The incidence of diabetes insipidus in our patients was lower comparedto other studies. Growth retardation, as short stature and a weight below the 5th percentile for ageand gender, was found in 13 (81%) and 5 (31%) patients respectively.Conclusion: Early diagnosis and proper treatment aimed at relieving the symptoms andpreventing the future complications are of paramount value and importance.