Article Text

Download PDFPDF
Neurological abnormalities in the `cri-du-chat' syndrome
  1. Jack Colover,
  2. Mary Lucas,
  3. J. A. Comley2,
  4. A. M. Roe2
  1. South-East Metropolitan Regional Neurological Unit, Brook General Hospital, London, S.E.18
  2. Galton Laboratory, University College, London, W.C.1

    Abstract

    An unusual case of the cri-du-chat syndrome is described in a 6½ year old boy, who, as well as attacks of stridor and choking, showed disorders of spatial perception and cerebellar signs in the form of nystagmus, clumsiness of the hands, and ataxia. Pyramidal signs were also present. He was only mildly retarded mentally. Psychological testing showed that he had a severe deficit for number processing, and also constructional apraxia. Surprisingly, his vocabulary was quite good, as was his reading capacity. Chromosome analysis showed a very small deletion of the short arm of the group B chromosome. In infancy this diagnosis may be suspected because of the high-pitched cry and attacks of stridor and choking. In late childhood, when the signs may be only of a neurological disorder, its recognition may be difficult without confirmation from chromosome studies. The neurological features of this disease are reviewed.

    Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Footnotes

    • 2 From the Department of Education, London Borough of Bexley.

    • 1 Based on a paper read to the Association of British Neurologists on 21 November, 1970.