| Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup. | |
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MedLine Citation:
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PMID: 22197981 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic accumulation in multiple tissues. Progressive neuropsychiatric disturbances are a frequent manifestation of this disease. Although seizures have been frequently noticed as part of CTX manifestations, there have not been reports of CTX being diagnosed in drug-resistant epilepsy diagnostic workup nor of seizure response to chenodeoxycholic acid treatment. Here, the authors present a case of a drug-resistant epilepsy patient with a complex phenotype where a diagnosis of CTX was done and showed a significant reduction in seizure frequency after chenodeoxycholic acid supplementation. This report illustrates the importance of considering treatable neurometabolic disorders in epileptic patients showing complex phenotypes. |
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Authors:
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Kauffman Marcelo Andrés; Gonzalez Morón Dolores; Consalvo Damián; Kochen Silvia |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-23 |
Journal Detail:
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Title: The American journal of the medical sciences Volume: - ISSN: 1538-2990 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-26 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370506 Medline TA: Am J Med Sci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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From the Consultorio de Neurogenética (KMA, GMD) and Centro de Epilepsia (CD, KS), Centro Universitario de Neurología JM Ramos Mejia, Buenos Aires, Argentina; and IBCN Eduardo de Robertis (KMA, KS), Facultad de Medicina, UBA-CONICET, Buenos Aires, Argentina. |
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