Bilateral focal polymicrogyria in Ehlers-Danlos syndrome

Background: Ehlers-Danlos syndrome (EDS) is a heterogeneous group of genera lized connective tissue disorders that has been described in association wi th epilepsy and cerebral cortical dysplasia, mostly gray matter heterotopia s, in 3 reports. However, to our knowledge, association of EDS with another type of cortical cerebral dysplasia, bilateral focal polymicrogyria, has n ever 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, se izures, 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 perisy lvian syndrome with polymicrogyria. Conclusions: The association of bilateral focal polymicrogyria and EDS in t hese 2 patients suggests that extracellular matrix proteins implicated in t he pathogenesis of EDS, such as collagen and tenascin, may play an importan t role in cerebral cortical formation and organization. In a clinical setti ng, the association of EDS with these cortical structural lesions has impli cations for diagnosis and management.