CLINICAL-FEATURES OF DEVELOPMENTAL DISABILITY ASSOCIATED WITH CEREBELLAR HYPOPLASIA

Sporadic nonsyndromic cerebellar hypoplasia is a radiological diagnosi s with clinical features and a relation with developmental disability that are presently not known. Through a retrospective review of a comp rehensive standardized computerized database containing more than 2,50 0 patients examined consecutively by a pediatric neurologist, 11 with nonfamilial, nonsyndromic cerebellar hypoplasia on neuroimaging (CT an d/or MRI) were identified. With the exception of two patients, all had been originally referred during infancy or the preschool years for as sessment of a developmental disability. All 11 had ''cerebellar'' find ings on initial examination and five were microcephalic; three others were below the 10th percentile, All exhibited developmental disability , commonly of mild to moderate degree. Motor involvement predominated, often involving fine motor skills more than gross motor functions. Im aging consistently disclosed vermis hypoplasia with additional suprate ntorial cerebral dysgenesis in one child and cerebellar hemispheric hy poplasia in another. Cerebellar hypoplasia is a developmental anomaly that appears to be either etiologically related to, or a marker for, d evelopmental disability, thus confirming the intact cerebellum's integ ral role in normal psychomotor development. This series suggests that cerebellar hypoplasia should be considered in the young child presenti ng with developmental delay with prominent motor involvement, together with cerebellar signs and/or microcephaly. (C) 1996 by Elsevier Scien ce Inc. All rights reserved.