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January 2022

Cerebellar dysplasia and unilateral cataract in Marinesco-Sjogren syndrome

Author(s): Buchhalter, J. R., Sussman, M. D.

Journal/Book: Pediat Neurol. 1996; 14: 655 Avenue of the Americas, New York, NY 10010. Elsevier Science Publ Co Inc. 158-161.

Abstract: The classic features of Marinesco-Sjogren 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-Sjogren syndrome.

Note: Article JR Buchhalter, Oregon Hlth Sci Univ, Div Pediat Neurol, 745 SW Gaines Rd, CDW-1, Portland, OR 97201 USA

Keyword(s): HYPERGONADOTROPIC HYPOGONADISM; COMPUTED-TOMOGRAPHY; MENTAL-RETARDATION; HEARING-LOSS; MYOPATHY; ATROPHY; ATAXIA


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