Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: a case report

J Neurol Sci. 2003 Sep 15;213(1-2):83-6. doi: 10.1016/s0022-510x(03)00148-5.


Turner's syndrome (TS) is rarely associated with serious abnormalities of brain structure or malformations of cortical development. We report a 17-year-old girl with TS and 45,XO/46,XX mosaicism presenting bilateral frontal polymicrogyria (BFP) and epilepsy. To our knowledge, the association between TS and BFP has never been reported to date. Our observation confirms that in humans the X-chromosome plays an important role in the development and specialization of brain structure and function. We hypothesize that the absence or abnormalities of developmental genes localized on the X-chromosome could be involved in the pathogenesis of BFP observed in our patient.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Epilepsy / etiology*
  • Epilepsy / pathology
  • Female
  • Frontal Lobe / abnormalities
  • Frontal Lobe / pathology*
  • Humans
  • Mosaicism / pathology*
  • Mosaicism / physiopathology*
  • Turner Syndrome / complications*
  • Turner Syndrome / pathology