Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report
Objective To report one case of chronic cerebral venous thrombosis (CVT) caused by compound heterozygous mutation in MTHFR gene, and to investigate the association between compound heterozygous mutation in MTHFR gene and chronic CVT as well as its pathophysiology mechanism. Methods and Results A 27-...
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Tianjin Huanhu Hospital
2025-06-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
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| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/3050 |
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| author | YU Xuan-yue LIU Ke-xin FAN Tie-ping LI Shu-min LIANG Xin-tian LIU Yi |
| author_facet | YU Xuan-yue LIU Ke-xin FAN Tie-ping LI Shu-min LIANG Xin-tian LIU Yi |
| author_sort | YU Xuan-yue |
| collection | DOAJ |
| description | Objective To report one case of chronic cerebral venous thrombosis (CVT) caused by compound heterozygous mutation in MTHFR gene, and to investigate the association between compound heterozygous mutation in MTHFR gene and chronic CVT as well as its pathophysiology mechanism. Methods and Results A 27-year-old male patient presented to the hospital with sudden onset headache. Imaging findings showed chronic thrombosis of the left superior sagittal sinus, inferior sagittal sinus, straight sinus, transverse sinus and confluence of sinus, and laboratory tests revealed hyperhomocysteinemia (homocysteine > 100 μmol/L). Genetic testing showed that the patient had a compound heterozygous mutation of MTHFR gene c.325C > G (p.Arg109Gly) and c.277C > T (p.Arg93Ter), and the mother also carried the c.277C > T (p.Arg93Ter) heterozygous mutation, suggesting a familial predisposition. The clinical diagnosis was chronic CVT caused by a compound heterozygous mutation in MTHFR gene. Following anticoagulation therapy combined with folate acid and vitamin B supplementation, symptoms improved, but homocysteine level remained elevated. Conclusions This paper first reports the association of MTHFR gene c.325C > G (p.Arg109Gly) and c.277C > T (p.Arg93Ter) compound heterozygous mutation with CVT. Compound heterozygous mutation in MTHFR gene play an important role in the chronicity of thrombosis, and the necessity of genetic testing and individualized therapy for patients with hereditary thrombophilia should be emphasized. |
| format | Article |
| id | doaj-art-58d04e54d0604a4abecb9d583e6606ed |
| institution | Kabale University |
| issn | 1672-6731 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Tianjin Huanhu Hospital |
| record_format | Article |
| series | Chinese Journal of Contemporary Neurology and Neurosurgery |
| spelling | doaj-art-58d04e54d0604a4abecb9d583e6606ed2025-08-20T03:29:52ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312025-06-0125651752210.3969/j.issn.1672⁃6731.2025.06.010Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case reportYU Xuan-yue0LIU Ke-xin1FAN Tie-ping2LI Shu-min3LIANG Xin-tian4LIU Yi5Department of Neurology, Central Hospital of Dalian University of Technology, Dalian 116033, Liaoning, ChinaGrade 2023, The First Clinical College of China Medical University, Shenyang 110122, Liaoning, ChinaDepartment of Neurology, Central Hospital of Dalian University of Technology, Dalian 116033, Liaoning, ChinaDepartment of Neurology, Central Hospital of Dalian University of Technology, Dalian 116033, Liaoning, ChinaGrade 2022, Graduate School of Dalian Medical University, Dalian 116044, Liaoning, ChinaDepartment of Neurology, Central Hospital of Dalian University of Technology, Dalian 116033, Liaoning, ChinaObjective To report one case of chronic cerebral venous thrombosis (CVT) caused by compound heterozygous mutation in MTHFR gene, and to investigate the association between compound heterozygous mutation in MTHFR gene and chronic CVT as well as its pathophysiology mechanism. Methods and Results A 27-year-old male patient presented to the hospital with sudden onset headache. Imaging findings showed chronic thrombosis of the left superior sagittal sinus, inferior sagittal sinus, straight sinus, transverse sinus and confluence of sinus, and laboratory tests revealed hyperhomocysteinemia (homocysteine > 100 μmol/L). Genetic testing showed that the patient had a compound heterozygous mutation of MTHFR gene c.325C > G (p.Arg109Gly) and c.277C > T (p.Arg93Ter), and the mother also carried the c.277C > T (p.Arg93Ter) heterozygous mutation, suggesting a familial predisposition. The clinical diagnosis was chronic CVT caused by a compound heterozygous mutation in MTHFR gene. Following anticoagulation therapy combined with folate acid and vitamin B supplementation, symptoms improved, but homocysteine level remained elevated. Conclusions This paper first reports the association of MTHFR gene c.325C > G (p.Arg109Gly) and c.277C > T (p.Arg93Ter) compound heterozygous mutation with CVT. Compound heterozygous mutation in MTHFR gene play an important role in the chronicity of thrombosis, and the necessity of genetic testing and individualized therapy for patients with hereditary thrombophilia should be emphasized.http://www.cjcnn.org/index.php/cjcnn/article/view/3050venous thrombosiscerebral veinschronic diseasemethylenetetrahydrofolate reductase (nadph2)genesmutationheterozygotehyperhomocysteinemia |
| spellingShingle | YU Xuan-yue LIU Ke-xin FAN Tie-ping LI Shu-min LIANG Xin-tian LIU Yi Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report Chinese Journal of Contemporary Neurology and Neurosurgery venous thrombosis cerebral veins chronic disease methylenetetrahydrofolate reductase (nadph2) genes mutation heterozygote hyperhomocysteinemia |
| title | Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report |
| title_full | Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report |
| title_fullStr | Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report |
| title_full_unstemmed | Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report |
| title_short | Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report |
| title_sort | compound heterozygous mutation in mthfr gene lead to chronic cerebral venous thrombosis one case report |
| topic | venous thrombosis cerebral veins chronic disease methylenetetrahydrofolate reductase (nadph2) genes mutation heterozygote hyperhomocysteinemia |
| url | http://www.cjcnn.org/index.php/cjcnn/article/view/3050 |
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