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Spinal cord demyelination combined with hyperhomocysteinemia: a case report.


ABSTRACT: Hyperhomocysteinemia (HHcy) has been recognized as an independent risk factor for atherosclerotic vascular disease. Here we report a patient who suffered from spinal cord demyelination combined with HHcy. The patient was admitted to our hospital with a diagnosis of acute myelitis. However, hormone therapy was ineffective. Further investigations revealed that he had HHcy and a homozygous mutation of the gene encoding methylenetetrahydrofolate reductase (MTHFR) c.677C>T, which is a key enzyme involved in homocysteine metabolism. In view of these findings, we treated the patient with B vitamins and his symptoms gradually improved. Spinal magnetic resonance imaging performed 3 months after onset showed near recovery of the lesion. To our knowledge, similar reports are rare.

SUBMITTER: Hao M 

PROVIDER: S-EPMC4224091 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature