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Article

Cerebral venous thrombosis with hyperhomocysteinemia due to loss of heterozygosity at methylenetetrahydrofolate reductase (MTHFR) locus: a case report.

BMC neurology - 19 Apr 2023

Zhang Mingjie, Shi Bingxin, Zhao Mangsuo

Abstract excerpt

BACKGROUND: Loss of heterozygosity (LOH) at methylenetetrahydrofolate reductase (MTHFR) locus has been reported in tumor tissue. But the mutation was never reported in cerebral venous thrombosis (CVT) with hyperhomocysteinemia (HHcy) before. CASE PRESENTATION: A 14-year-old girl was admitted with an intermittent headache and nausea for 2 months. The plasma homocysteine level was 77.2 µmol/L. Lumbar puncture...

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Identifiers

PMID: 37076800
DOI: 10.1186/s12883-023-03200-y
PMCID: PMC10114475

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