| Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency. | |
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MedLine Citation:
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PMID: 21480888 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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A 19-year-old university student with no personal or family history of neurologic disorders developed convulsions and was administered phenytoin. Two months later, he developed lower limb-dominant acute demyelinating polyneuropathy, from which he recovered within 2 months. At age 20, he rapidly developed visual disturbances and paraplegia from phenytoin intoxication. Cranial magnetic resonance imaging (MRI) revealed leukoencephalopathy with no evidence of thrombosis or vasoconstriction. Hyperhomocysteinemia, hypomethioninemia, low serum folate concentration, and an absence of megaloblastic anemia were consistent with the diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency. A genomic DNA sequence analysis demonstrated compound heterozygosity for two missense mutations in the MTHFR gene, namely, [458G>T + 459C>T] (Gly149Val) and 358G>A (Ala116Thr), both of which are known pathogenic mutations. An absence of leukoencephalopathic changes on MRI scans performed 9 months previously strongly suggested that phenytoin intoxication caused acute leukoencephalopathy. Therefore, phenytoin may be an aggravating factor of remethylation defects in patients with MTHFR deficiency. |
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Authors:
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Motomi Arai; Hitoshi Osaka |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-11 |
Journal Detail:
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Title: Epilepsia Volume: - ISSN: 1528-1167 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2983306R Medline TA: Epilepsia Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Wiley Periodicals, Inc. © 2011 International League Against Epilepsy. |
Affiliation:
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Department of Neurology, Seirei Mikatahara General Hospital, Hamamatsu, Japan Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan. |
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