| Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. | |
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MedLine Citation:
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PMID: 21397171 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 2-year-old girl from a consanguineous marriage was evaluated for refractory seizures that had presented at birth. Since her presentation, she had been treated with pyridoxine and antiepileptic medications. Because she did not manifest the expected clinical response, pyridoxine was discontinued, which led to an increase in clinical events. Cerebrospinal fluid neurotransmitter metabolite chromatography and an assay of serum biomarkers, including pipecolic acid and α-aminoadipic semialdehyde, confirmed the diagnosis of pyridoxine-dependent epilepsy, and genetic testing identified a homozygous mutation in our patient, and in a first cousin with epilepsy. The reintroduction of pyridoxine and addition of folinic acid eventually led to control of her seizures. Early testing of biomarkers may prevent delays in diagnosing pyridoxine-dependent epilepsy. We recommend that all patients presenting with cryptogenic seizures before age 18 months undergo this evaluation. |
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Authors:
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Eric B Segal; Zachary M Grinspan; Arthur M Mandel; Sidney M Gospe |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 44 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-03-14 Completed Date: 2011-07-01 Revised Date: 2011-12-06 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 289-91 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Neurology, Children's Hospital Boston, Boston, MA, USA. eric.segal@childrens.harvard.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Biological Markers* Child, Preschool Epilepsy* / diagnosis Female Humans |
| Chemical | |
Reg. No./Substance:
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0/Biological Markers |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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