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Journal of Child Neurology
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*Ehlers-Danlos Syndrome
*Genetics Home Reference
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Subependymal Periventricular Heterotopias in a Patient With Ehlers-Danlos Syndrome: A New Case

Salvatore Savasta, MD

Department of Pediatrics Science, IRCCS Policlinico S. Matteo, University of Pavia, Italy, s.savasta{at}smatteo.pv.it.

Mario Crispino, MD

Radiodiagnostics Service, Istituti Ospitalieri, Cremona, Italy

Maurizia Valli, BS

Biochemical Department, University of Pavia, Italy

Alberto Calligaro, MD

Department of Experimental Medicine, Histology and Embriology Section, University of Pavia, Italy

Cesare Zambelloni, MD

Division of Pediatrics and Intensive Neonatal Care, Istituti Ospitalieri, Cremona, Italy

Carlo Poggiani, MD

Division of Pediatrics and Intensive Neonatal Care, Istituti Ospitalieri, Cremona, Italy

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.

Key Words: Ehlers-Danlos syndrome • periventricular heterotopia

Journal of Child Neurology, Vol. 22, No. 3, 317-320 (2007)
DOI: 10.1177/0883073807299857
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