MTHFR유전자의 이형접합변이(C677T)를 동반한 대뇌정맥동혈전증
Cerebral Venous Sinus Thrombosis with MTHFR C677T Heterozygous Mutation
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초록
Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases the level of homocysteine. MTHFR C677T gene polymorphism has been reported as a wellknown cause of elevated homocysteine level associated with cerebral venous sinus thrombosis (CVST). A 34yearold 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
Abstract
Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases the level of homocysteine. MTHFR C677T gene polymorphism has been reported as a wellknown cause of elevated homocysteine level associated with cerebral venous sinus thrombosis (CVST). A 34yearold 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
참고문헌 (9)
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