Hereditary nodular heterotopia accompanied by mega cisterna magna

Am J Med Genet. 1993 Aug 15;47(2):268-71. doi: 10.1002/ajmg.1320470225.

Abstract

This is the first report of hereditary nodular heterotopia accompanied by mega cisterna magna. Magnetic resonance imaging documented multiple bilateral subependymal nodules, which were isointense to gray matter. This disease entity is considered a dominant trait, since the mother and two daughters, half-sisters, were affected.

MeSH terms

  • Adult
  • Brain Diseases / diagnosis
  • Brain Diseases / embryology
  • Brain Diseases / genetics*
  • Cell Movement
  • Cerebral Cortex* / embryology
  • Child
  • Choristoma / genetics*
  • Cisterna Magna / abnormalities*
  • Ependyma*
  • Epilepsy / genetics
  • Female
  • Genes, Dominant
  • Genetic Diseases, Inborn / genetics
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Neurons
  • Pedigree