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NEUROLOGY 1994;44:344
© 1994 American Academy of Neurology

Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylene- tetrahydrofolate reductase deficiency

David Walk, MD, Soo-Sang Kang, MD, PhD and Allen Horwitz, MD, PhD

Department of Neurology (Dr. Walk), University of Illinois and Michael Reese Hospital and Medical Center; the Department of Pediatrics (Dr. Kang), Section of Genetics, Rush Medical College and Rush-Presbyterian-St. Luke's Medical Center; and the Department of Pediatrics (Dr. Horwitz), University of Illinois, Chicago, IL.

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.

Address correspondence and reprint requests to Dr. David Walk, Department of Neurology, Michael Reese Hospital and Medical Center, 2929 S. Ellis, Chicago, IL 60616.

Received October 15, 1992. Accepted for publication in final form August 5,1993.




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