Malformations of cortical development in neurofibromatosis type 1

Neurology. 2003 Dec 23;61(12):1799-801. doi: 10.1212/01.wnl.0000099080.90726.ba.

Abstract

The authors report three patients with neurofibromatosis type 1 and different types of malformations of cortical development: Patient 1 had a possible transmantle cortical dysplasia involving the right temporoinsuloparieto-occipital areas; Patient 2 had a periventricular band of heterotopic gray matter with an overlying pachygyric cerebral cortex; and Patient 3 had a left perisylvian polymicrogyria. Because all of these lesions result from different pathogenetic mechanisms, neurofibromin may play a role during several stages of cortical development.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Child, Preschool
  • Developmental Disabilities / etiology
  • Electroencephalography
  • Female
  • Humans
  • Intellectual Disability / etiology
  • Magnetic Resonance Imaging
  • Male
  • Nervous System Malformations / complications
  • Nervous System Malformations / diagnosis*
  • Neurofibromatosis 1 / complications
  • Neurofibromatosis 1 / diagnosis*
  • Seizures / etiology