Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome

Pediatr Neurol. 2010 Feb;42(2):129-32. doi: 10.1016/j.pediatrneurol.2009.09.012.

Abstract

We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega-corpus callosum syndrome, suggests a possible autosomal-recessive inheritance, and expands the spectrum of this rare entity.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Malformations of Cortical Development / complications
  • Malformations of Cortical Development / diagnosis*
  • Malformations of Cortical Development / genetics*
  • Pedigree
  • Psychomotor Disorders / complications
  • Psychomotor Disorders / diagnosis*
  • Psychomotor Disorders / genetics*
  • Syndrome