Wolfram Syndrome: Case Report of Two Siblings with Review of Literature

Abstract

Wolfram syndrome (WS), also known as DIDMOAD (Diabetes insipidus, Diabetes mellitus, Optic atrophy, Deafness), is an autosomal recessive neurodegenerative disorder. It was first described in 1938 by Wolfram and Wagener [1]. Although a rare disease, it is associated with significant morbidity and mortality due to lack of effective treatment to halt, delay or reverse the progression of disease [1]. The major clinical presentation includes Diabetes mellitus, optic atrophy, central diabetes insipidus, sensorineural deafness, urinary tract problems and neurological difficulties. Diabetes mellitus is the usually first manifestation of the disease at the age of 6 years followed by optic atrophy at around 11 years of age [2]. Additional morbidities include hypogonadism, infertility, hypopituitarism [3], cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract problems [4-6].