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,...

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Bibliographic Details
Published in:Journal of child neurology 2007-03, Vol.22 (3), p.317-320
Main Authors: Savasta, Salvatore, Crispino, Mario, Valli, Maurizia, Calligaro, Alberto, Zambelloni, Cesare, Poggiani, Carlo
Format: Article
Language:English
Subjects:
Cerebral Ventricles - pathology
Child
Choristoma - complications
Choristoma - diagnosis
Ehlers-Danlos Syndrome - complications
Ehlers-Danlos Syndrome - diagnosis
Ependyma
Female
Humans
Magnetic Resonance Imaging - methods
Microscopy, Electron, Transmission - methods
Mucous Membrane - pathology
Mucous Membrane - ultrastructure
Periaqueductal Gray - pathology
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Summary: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.
ISSN:0883-0738
1708-8283
DOI:10.1177/0883073807299857