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

BMC Neurology

Case Report

Bingxin Shi¹  Mangsuo Zhao¹  Mingjie Zhang² 

[1]Brain Science Center, Tsinghua University Yuquan Hospital, No. 5 Shijingshan Road, 100049, Beijing, PR China

[2]Department of Neurology, The First Medical Center, Chinese PLA General Hospital, No. 28 Fuxing Road, 100853, Beijing, PR China

关键词: Cerebral venous thrombosis;    Hyperhomocysteinemia;    Methylenetetrahydrofolate reductase;    Loss of heterozygosity;   

DOI  :  10.1186/s12883-023-03200-y

 received in 2022-07-27, accepted in 2023-04-04,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundLoss 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 presentationA 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 revealed an intracranial pressure > 330 mmH2O. Cerebral MRI and MRV revealed superior sagittal sinus thrombosis. Whole-exome sequencing revealed LOH at Chr1:11836597–11,867,232 affects exons 10–21 of C1orf167, the entire MTHFR, and exons 1–2 of the CLCN6 gene. The normal allele was the c.665 C > T/677 C > T variant in MTHFR. The patient was treated with nadroparin for 2 weeks, followed by oral rivaroxaban. Supplemental folate and vitamins B12 and B6 were prescribed. One month later, she had no headache and the intracranial pressure had decreased to 215 mmH2O. MRI showed shrinkage of the thrombosis in the superior sagittal sinus, the degree of stenosis had significantly decreased.ConclusionsRare LOH at the MTHFR locus should be analyzed in CVT with HHcy. With anticoagulation treatment, the prognosis was good.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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