Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case.
Ehlers-Danlos syndrome is a complex hereditary connective tissue disorder that is characterized by abnormalities of the skin and joints and visceral and neurological manifestations. At present, at least 11 forms are recognized on the basis of their clinical characteristics, methods of transmission, and biochemical defect. The neurologic manifestations include cerebrovascular disease, peripheral neuropathy, plexopathy, periventricular subependymal heterotopias, and epilepsy. Previously, 2 females were reported to be affected with subependimal periventricular heterotopias and Ehlers-Danlos syndrome type 1. The authors report a new case of a 12-year-old girl with similar clinical and neuroradiological features.
Savasta
Salvatore
S
Department of Pediatrics Science, IRCCS Policlinico S Matteo, University of Pavia, Italy. s.savasta@smatteo.pv.it
Crispino
Mario
M
Valli
Maurizia
M
Calligaro
Alberto
A
Zambelloni
Cesare
C
Poggiani
Carlo
C
D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D002828:Choristoma / Q000150:complications* / Q000175:diagnosis; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis; D004805:Ependyma; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D046529:Microscopy, Electron, Transmission / Q000379:methods; D009092:Mucous Membrane / Q000473:pathology / Q000648:ultrastructure; D010487:Periaqueductal Gray / Q000473:pathology