Polymicrogyria, Large Corpus Callosum and Psychomotor Retardation in Four-Year-Old Girl: Potential Association Based on MR Findings. A Case Report and Literature Review

Neuroradiol J. 2014 Oct;27(5):590-4. doi: 10.15274/NRJ-2014-10065. Epub 2014 Sep 25.

Abstract

SUMMARY - We describe a child from consanguineous parents presenting mega corpus callosum (MegaCC), polymicrogyria, psychomotor retardation with swallowing difficulties and language impairment perhaps linked to the syndrome of megalencephaly-polymicrogyria-mega corpus callosum (MEG-PMG-MegaCC). Reviewing the literature, we speculate that MegaCC, psychomotor retardation and anomalies in cortical migration are the three pathognomonic features. The presence of additional possibly associated anomalies such as megalencephaly, indicates that the spectrum of linked malformations with this rare syndrome is broad and yet to be defined.

Keywords: mega corpus callosum; polymicrogyria; psychomotor retardation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain / diagnostic imaging
  • Child, Preschool
  • Corpus Callosum / diagnostic imaging*
  • Deglutition Disorders / diagnostic imaging*
  • Female
  • Humans
  • Language Disorders / diagnostic imaging*
  • Magnetic Resonance Imaging
  • Megalencephaly / diagnostic imaging*
  • Polymicrogyria / diagnostic imaging*
  • Syndrome