Bilateral perysilvian polymicrogyria in Chiari I malformation

Childs Nerv Syst. 2006 Dec;22(12):1635-7. doi: 10.1007/s00381-006-0180-x. Epub 2006 Oct 13.

Abstract

Case report: We report on a 7-year-old girl with generalized epilepsy and mental retardation.

Discussion: Neurologic examination was normal and only facial dysmorphic features, compatible with frontonasal dysplasia, were observed. However, magnetic resonance imaging (MRI) revealed Chiari I malformation together with bilateral opercular polymicrogyria. To our knowledge, this is the first report of the association of these developmental disorders. This condition raises questions regarding the ethiopathogenetic classification of Chiari spectrum and as to whether embryologic and genetic causes could be potentially interconnected.

Publication types

  • Case Reports

MeSH terms

  • Arnold-Chiari Malformation / pathology*
  • Cerebellum / abnormalities*
  • Cerebral Cortex / abnormalities*
  • Child
  • Epilepsy, Generalized / pathology
  • Female
  • Functional Laterality
  • Humans
  • Intellectual Disability / pathology
  • Magnetic Resonance Imaging