Dr. NIKHIL GANDHI

Abstract

A 14yrs female child born as a product of non-consanguineous marriage and uncomplicated pregnancy,presented with history of progressive loss of vision both eyes of 4yrs duration.She was found to be a diabetic at the age of 3 years and had been on plain and lente insulin with history of frequent micturition since 1yr.There was no history of trauma,weight loss,itching,numbness in extremities, convulsions or hearing loss

Wolfram syndrome is a rare neurodegenerative and genetic disorder which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy.Patients develop diabetes insipidus,deafness,urinary tract, and neurological abnormalities in due course.Sixty percentages of patients die by the age of 35 years usually due to central respiratory failure following brain stem atrophy.There is no treatment to reverse mechanism of neurodegeneration,early diagnosis and adequate hormonal replacement could improve quality of life and survival