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Encephalocraniocutaneous lipomatosis: neurologic manifestations
Journal article   Peer reviewed

Encephalocraniocutaneous lipomatosis: neurologic manifestations

Rafael Lasierra, Ignacio Valencia, Francisco J Carapeto, Purificación Ventura, M Pilar Samper, Gerardo Rodríguez, José M Pérez-González and Agustín Legido
Journal of child neurology, v 18(10), pp 725-729
01 Oct 2003
PMID: 14649557

Abstract

We report a new case of encephalocraniocutaneous lipomatosis, a rare neurocutaneous syndrome of unknown etiology with involvement of tissues arising from the mesoderm and ectoderm: skin, eye, adipose tissue, and brain. We also review the neurologic manifestations of the syndrome, the most frequent of which include seizures, ventricular enlargement, calcifications, mental retardation, and cerebellopontine angle tumor. Our patient had an extensive extradural spinal cord lipomatous lesion, emphasizing the importance of screening for spinal abnormalities in asymptomatic patients with this condition.

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Collaboration types
Domestic collaboration
Web of Science research areas
Clinical Neurology
Pediatrics
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