Cyst-like cerebral lesions in tuberous sclerosis

Am J Med Genet. 2002 Sep 1;111(4):435-9. doi: 10.1002/ajmg.10637.

Abstract

Known brain manifestations of tuberous sclerosis (TSC) are cortical sclerotic tubera, giant cell astrocytomas, subependymal calcified nodules in the lateral walls of the lateral ventricles, and white matter heterotopias. In addition, small cyst-like lesions in the white matter have been described. We report on three TSC patients with hitherto undescribed large cyst-like cerebral lesions in subcortical and white matter locations. We emphasize that cystoid brain degeneration is a rare but typical cerebral manifestation of TSC and suggest that, in patients with such lesions, TSC should be taken into consideration.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Central Nervous System Cysts / genetics
  • Central Nervous System Cysts / pathology*
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Telencephalon / abnormalities*
  • Telencephalon / pathology
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / pathology*