• Pediatric neurology · Feb 1996

    Case Reports

    Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.

    • T E Williams, J R Buchhalter, and M D Sussman.
    • School of Medicine, Oregon Health Sciences University, Portland, USA.
    • Pediatr. Neurol. 1996 Feb 1; 14 (2): 158-61.

    AbstractThe 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.

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