[Brain morphometry using MRI in Cri-du-Chat Syndrome. Report of seven cases with review of the literature]

Ann Genet. 1993;36(2):75-87.
[Article in French]

Abstract

The authors present the results of a morphometric study of the brain of 7 patients with cat cry syndrome, explored with Magnetic Resonance Imaging (MRI). A method is proposed in order to facilitate the identification of the anatomical slices. A characteristic anomaly is observed as a marked atrophy of the brainstem predominating at the pontine level and associated with a small cerebellum, atrophic middle cerebellar peduncles and cerebellar white matter. This apparently systematized atrophy obvious in children, seems similar to the one observed in patients presenting a olivopontocerebellar atrophy, possibly correlating with disturbance of coordination and developmental delay in motility as observed in these patients. This does not implicate the same subjacent functional neuroanatomical pathways.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Biometry
  • Brain / pathology*
  • Child
  • Child, Preschool
  • Cri-du-Chat Syndrome / genetics
  • Cri-du-Chat Syndrome / pathology*
  • Female
  • Humans
  • Karyotyping
  • Magnetic Resonance Imaging
  • Male