Wolfram Syndrome: report of five cases and review of literature

ABSTRACT

To report five cases of Wolfram syndrome, an autosomal recessive neurodegenerative disease with Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness[DIDMOAD syndrome]. All of the five patients had diabetes mellitus and optic atrophy. Four patients had hearing loss. In spite of persistence of polyuria and polydipsia, diabetes insipidus had been previously detected in only one patient and its presence was discovered after the diagnosis of the syndrome in the other three. Two brothers had open angle glaucoma. Although Wolfram syndrome is rare, it should be considered in all insulin-dependent diabetics in whom polyuria and polydipsia persists despite adequate control of blood sugar. It should also be considered in familial cases of diabetes mellitus type I. Presence of optic atrophy is a helpful sign for diagnosis. Fundoscopy is crucial for early diagnosis. With early management of diabetes insipidus, late urologic complications may be prevented. Quality of life may be improved with visual and hearing aids