CEREBELLAR DYSPLASIA AND UNILATERAL CATARACT IN MARINESCO-SJOGREN SYNDROME

The classic features of Marinesco-Sjogren syndrome include bilateral c ataracts, cerebellar ataxia, and mental deficiency,with an autosomal r ecessive inheritance pattern, Weakness and a variety of other characte ristics are present inconsistently, A limited number of neuroimaging s tudies have indicated that cerebellar hypoplasia is the most common fi nding, We report a patient with near normal intelligence, unilateral c ataract, and the previously unreported magnetic resonance imaging find ings of cerebellar dysplasia, arachnoid cyst, and absent septum pelluc idum. A review of the literature suggests significant heterogeneity in the Marinesco-Sjogren syndrome.