Ehlers-Danlos syndrome with subependymal periventricular heterotopias.
A 24-year-old woman with Ehlers-Danlos syndrome had complex partial and right sensory motor seizures. MRI showed periventricular subependymal heterotopias, agenesis of the posterior part of the corpus callosum, mega cisterna magna, and aneurysms of the sinuses of Valsalva. This may constitute a new subtype of type 1 Ehlers-Danlos syndrome characterized by X-linked periventricular subependymal heterotopias and epilepsy.
Thomas
P
P
Service de Neurologie, Hôpital Pasteur, Nice, France.
Bossan
A
A
Lacour
J P
JP
Chanalet
S
S
Ortonne
J P
JP
Chatel
M
M
D000328:Adult; D001927:Brain Diseases / Q000150:complications*; D002552:Cerebral Ventricles; D002828:Choristoma / Q000150:complications* / Q000175:diagnosis; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000503:physiopathology; D004805:Ependyma; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D010487:Periaqueductal Gray