Tuberous sclerosis and Down syndrome: a casual association?

Brain Dev. 1992 Jul;14(4):245-8. doi: 10.1016/s0387-7604(12)80238-5.

Abstract

This paper reports on the clinical, neurophysiological and neuroradiological characteristics of a patient with Down syndrome unusually associated with tuberous sclerosis. In particular, epilepsy is investigated in detail and its polygraphic study and etiopathological factors are discussed. The most interesting findings are those related to the presence of a structural abnormality of the rolandic-parietal cortex, bilaterally, in the form of pachygyria.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Down Syndrome / complications*
  • Down Syndrome / diagnostic imaging
  • Down Syndrome / pathology
  • Electroencephalography
  • Electromyography
  • Electrooculography
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Tomography, X-Ray Computed
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / pathology