Bilateral focal polymicrogyria in Ehlers-Danlos syndrome.

نویسندگان

  • A Echaniz-Laguna
  • A de Saint-Martin
  • A L Lafontaine
  • E Tasch
  • P Thomas
  • E Hirsh
  • C Marescaux
  • F Andermann
چکیده

BACKGROUND Ehlers-Danlos syndrome (EDS) is a heterogeneous group of generalized connective tissue disorders that has been described in association with epilepsy and cerebral cortical dysplasia, mostly gray matter heterotopias, in 3 reports. However, to our knowledge, association of EDS with another type of cortical cerebral dysplasia, bilateral focal polymicrogyria, has never previously been described. SETTING Two research-oriented hospitals. PATIENTS We describe 2 patients with EDS and bilateral polymicrogyria. The first, a 29-year-old black man, presented with EDS of unspecified type, seizures, and bilateral frontocentral and frontoposterior polymicrogyria with hypoplasia of the inferior part of the cerebellar vermis. The second, a 20-year-old woman, had type III EDS, seizures and congenital bilateral perisylvian syndrome with polymicrogyria. CONCLUSIONS The association of bilateral focal polymicrogyria and EDS in these 2 patients suggests that extracellular matrix proteins implicated in the pathogenesis of EDS, such as collagen and tenascin, may play an important role in cerebral cortical formation and organization. In a clinical setting, the association of EDS with these cortical structural lesions has implications for diagnosis and management.

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عنوان ژورنال:
  • Archives of neurology

دوره 57 1  شماره 

صفحات  -

تاریخ انتشار 2000