J Korean Neurol Assoc.  2022 Oct;40(4):307-310. 10.17340/jkna.2022.4.3.

Cerebral Venous Sinus Thrombosis with MTHFR C677T Heterozygous Mutation

Affiliations
  • 1Department of Neurology, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea

Abstract

Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases the level of homocysteine. MTHFR C677T gene polymorphism has been reported as a well-known cause of elevated homocysteine level associated with cerebral venous sinus thrombosis (CVST). A 34-year-old male was admitted with severe headache after generalized seizure. Brain magnetic resonance venography showed thrombus in superior sagittal sinus. In the investigation of risk factors, a slight increase in homocysteine caused by MTHFR C677T heterozygous mutation is presumed to be the cause of CVST.

Keyword

MTHFR mutation; Hyperhomocysteinemia; Cerebral venous thrombosis
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