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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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Tianjin Huanhu Hospital
2025-06-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Subjects: | |
| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/3050 |
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| Summary: | 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. |
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| ISSN: | 1672-6731 |