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Andoni Echaniz-Laguna, MD; Anne de Saint-Martin, MD; Anne Louise Lafontaine, MD, FRCPC; Edwin Tasch, MD, FRCPC; Pierre Thomas, MD; Edouard Hirsh, MD, PhD; Christian Marescaux, MD, PhD; Frederick Andermann, MD, FRCPC

Arch Neurol. 2000;57:123-127.

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.

From the Unité d'Explorations Fonctionnelles des Epilepsies, Clinique Neurologique, Hôpital Civil, Strasbourg, France (Drs Echaniz-Laguna, de Saint-Martin, Hirsh, and Marescaux); the Department of Neurology and Neurosurgery, McGill University and the Montreal Neurological Institute and Hospital, Montreal, Quebec (Drs Lafontaine, Tasch, and Andermann); and Service de Neurologie, Hôpital Pasteur, Nice, France (Dr Thomas).

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