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
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- 1Department of Neurology, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea
- KMID: 2535869
- DOI: http://doi.org/10.17340/jkna.2022.4.3
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.
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