Unlayered polymicrogyria and agenesis of the corpus callosum: a relevant association?

Acta Neuropathol. 1992;83(3):265-70. doi: 10.1007/BF00296788.

Abstract

Three anatomical cases of unlayered polymicrogyria associated with agenesis of the corpus callosum and heterotopias are presented. The cortical dysplasia includes: (1) thin unlayered cortical mantle with radial disposition but no horizontal organisation of the neurons; (2) microgyria with fused molecular layers; and (3) persisting transitory cells in the molecular layer (Cajal-Retzius cells, subpial granular layer). A Golgi study of the cortex in one case shows abnormal orientation of the neuronal dendritic tree in the superficial area along the fused molecular layers. Heterotopias are of two types: scattered neurons in the subcortical region and in layer I; and nodular heterotopias in the paraventricular region and in centrum semi ovale. This type of cortical dysplasia differs from the classical four-layered microgyria and is similar to the cortical anomalies described in Aicardi syndrome. One case presented here has Aicardi syndrome, while the two others, one girl and one boy, do not meet the criteria for Aicardi syndrome; in particular, they do not display chorioretinal lacunae. Nevertheless, this neuropathological association is responsible for severe mental retardation and epilepsy, and incites the search for a genetic origin like that in Aicardi syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / pathology
  • Agenesis of Corpus Callosum*
  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Choroid Diseases / pathology
  • Corpus Callosum / pathology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / pathology
  • Male
  • Retinal Diseases / pathology
  • Seizures / pathology
  • Spasm / pathology
  • Syndrome