Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome

The classic features of Marinesco-Sjögren syndrome include bilateral cataracts, cerebellar ataxia, and mental deficiency with an autosomal recessive inheritance pattern. Weakness and a variety of other characteristics are present inconsistently. A limited number of neuroimaging studies have indicated that cerebellar hypoplasia is the most common finding. We report a patient with near normal intelligence, unilateral cataract, and the previously unreported magnetic resonance imaging findings of cerebellar dysplasia, arachnoid cyst, and absent septum pellucidum. A review of the literature suggests significant heterogeneity in the Marinesco-Sjögren syndrome.