Bilateral focal polymicrogyria in Ehlers-Danlos syndrome.
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.


METHODS
Two research-oriented hospitals.


METHODS
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.
Echaniz-Laguna
A
A
Unité d'Explorations Fonctionnelles des Epilepsies, Clinique Neurologique, Hôpital Civil, Strasbourg, France.
de Saint-Martin
A
A
Lafontaine
A L
AL
Tasch
E
E
Thomas
P
P
Hirsh
E
E
Marescaux
C
C
Andermann
F
F
D000328:Adult; D002531:Cerebellum / Q000002:abnormalities; D004535:Ehlers-Danlos Syndrome / Q000150:complications*; D004827:Epilepsy / Q000150:complications / Q000473:pathology; D005260:Female; D005625:Frontal Lobe / Q000002:abnormalities; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000150:complications* / Q000473:pathology