Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis

Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis

Author Pedroso, Jose Luiz Autor UNIFESP Google Scholar
Pinto, Wladimir B. Autor UNIFESP Google Scholar
Souza, Paulo V. Autor UNIFESP Google Scholar
Santos, Lucas T. Autor UNIFESP Google Scholar
Abud, Isabela C. Autor UNIFESP Google Scholar
Avelino, Marcela Amaral Autor UNIFESP Google Scholar
Barsottini, Orlando G. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder, which usually presents with diverse systemic manifestations (ophthalmologic, cardiac, and dermatologic symptoms), and neurological dysfunction, such as neuropsychiatric symptoms, cognitive decline, and ataxia. Epilepsy is rarely seen as the main neurological manifestation of CTX. Herein, we describe a middle-aged woman with epilepsy since childhood as the only neurological symptom associated with the classical systemic manifestations of CTX. (c) 2012 Elsevier Inc. All rights reserved.
Keywords Cerebrotendinous xanthomatosis
Epilepsy
Childhood
Language English
Date 2012-07-01
Published in Epilepsy & Behavior. San Diego: Academic Press Inc Elsevier Science, v. 24, n. 3, p. 380-381, 2012.
ISSN 1525-5050 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 380-381
Origin http://dx.doi.org/10.1016/j.yebeh.2012.04.121
Access rights Closed access
Type Article
Web of Science ID WOS:000305208900017
URI http://repositorio.unifesp.br/handle/11600/35067

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