Wolfram Syndrome and Congenital Cataract: case report

Abstract

Wolfram Syndrome (WS) is a rare and neurodegenerative disease, of autosomal recessive inheritance, characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus and sensorineural deafness. It has low life expectancy, on average 35 years old and the leading causes of death are respiratory failure and central apnea. This article intends to report a case of SW associated with congenital cataract. It is about a female patient of 30 years, diagnosed with diabetes at age three, daughter of consanguineous parents and maternal grandparents. At age ten were diagnosed bilateral optic atrophy and sensorineural hearing loss. Pathological history of bilateral congenital cataract, diagnosed at eight years old, unusual in the case of SW. There are few reports about the association between SW and congenital cataract and therelationship between these clinical conditions is not well understood yet. The clinical manifestations of this syndrome generally follow a chronological order of presentation. In this case, the manifestations of SW emerged in provided periods in the literature. The association of DM, decreased visual acuity and hearing should serve as a warning for the early diagnosis of WS.