Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency
Walk, D.; Kang, S.S.; Horwitz, A.
Neurology 44(2): 344-347
1994
ISSN/ISBN: 0028-3878 PMID: 8309589 Document Number: 435191
We describe a patient with methylenetetrahydrofolate reductase (MTHFR) deficiency in whom clinical and electrophysiologic fluctuations paralleled exacerbations of hyperhomocyst(e)inemia. MRI demonstrated abnormalities characteristic of a leukodystrophy.
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