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Neuropediatrics 1990; 21(4): 218-221
DOI: 10.1055/s-2008-1071501
Case report

© Georg Thieme Verlag KG Stuttgart · New York

Ataxia, Developmental Delay and an Extensive Neuronal Migration Abnormality in 2 Siblings

M. G. Harbord , S.  Boyd , M. A. Hall-Craggs , B.  Kendall , M. A. McShane , M.  Baraitser
  • Hospital for Sick Children, Great Ormond Street, London WC1, U.K.
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Two siblings with developmental delay and a non-progressive cerebellar ataxia are described. The electroencephalograms in both children showed a rather unusual pattern of high amplitude 10-12/s rhythms maximal anteriorly, while extensive neuronal migration abnormalities were apparent on Magnetic Resonance scans. There were no dysmorphic features, metabolic abnormalities, chromosomal defects or evidence of prenatal environmental toxins. It is considered that these siblings have an autosomal recessive neuronal migration defect which has not previously been reported.

Key words

Ataxia - Mental retardation - Neuronal migration