title: Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.
abstract: 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.
authors.affiliation: School of Medicine, Oregon Health Sciences University, Portland, USA.
authors.forename: T E
authors.initials: TE
authors.lastname: Williams
authors.forename: J R
authors.initials: JR
authors.lastname: Buchhalter
authors.forename: M D
authors.initials: MD
authors.lastname: Sussman
mesh_terms: D002386:Cataract / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013132:Spinocerebellar Degenerations / Q000175:diagnosis*