Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation

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Abstract
The cases of 4 patients with the Marinesco-Sjo''gren syndrome, an extremely rare heredodegenerative disorder, are presented. The clinical features of cases previously described are analyzed. Salient features of this disorder include cerebellar ataxia, congenital cataracts, and retarded mental and physical maturation. In addition, skeletal anomalies are usually observed. Pyramidal signs or, alternatively, areflexia may be present and muscle atrophy has been noted, especially in older patients. This condition is inherited as a simple autosomal recessive trait and is compatible with a reasonable life span. The new cases represent the first to be described in Negros and the first reported from the United States. A descriptive label for the condition is "hereditary oligophrenic cerebello-lental degeneration.".