亚甲基四氢叶酸还原酶纯合突变的颅内静脉窦血栓一例并文献复习

Cerebral venous sinus thrombosis with homozygous mutation of methylenetetrahydrofolate reductase:a case report and literature review

目的总结亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)纯合突变致同型半胱氨酸(homocystine,Hcy)升高、诱发颅内静脉窦血栓形成(cerebral venous sinus thrombosis,CVST)的临床特点和诊疗过程。方法选取2023年1月3日解放军总医院第八医学中心的CVST患者1例,回顾性分析患者的临床、实验室资料,并复习既往相关文献。结果患者男,18岁,因“头痛伴恶心呕吐2 d”就诊,临床表现为头部持续胀痛,伴恶心呕吐,Hcy异常升高,影像学示上矢状窦、右侧横窦、乙状窦血栓形成,基因测序结果为MTHFR纯合突变。既往文献显示,MTHFR纯合突变与CVST无直接因果关系,但可导致Hcy水平升高,并间接增加CVST的风险。结论应重视CVST患者的Hcy检测,如发现Hcy无明显诱因的异常升高,应进一步完善CVST相关遗传因素的基因检测,尽早针对病因进行治疗。

Objective To summarize the clinical characteristics,diagnosis and treatment process of homozygous mutation of methylenetetrahydrofolate reductase(MTHFR)which leads to the increase of homocystine(Hcy)and induces cerebral venous sinus thrombosis(CVST).Methods A patient with CVST admitted to the Eighth Medical Center of the PLA General Hospital on January 3th,2023 was selected,the clinical and laboratory data of the patient were retrospectively analyzed,and previous relevant literature was reviewed.Results The patient was an 18-year-old male,was treated with"headache accompanied by nausea and vomiting for 2 d".The clinical manifestations were persistent head pain accompanied by nausea and vomiting,and abnormal elevation of Hcy.Imaging findings indicated thrombosis in the superior sagittal sinus,right transverse sinus and sigmoid sinus,and the gene sequencing results showed homozygous mutation of MTHFR.Previous literature showed that homozygous mutation of MTHFR had no direct causal relationship with CVST,but it could increase Hcy level and indirectly increasd the risk of CVST.Conclusions Attention should be paid to the detection of Hcy in patients with CVST.If it is found that Hcy is abnormally increased without obvious inducement,the genetic detection of genetic factors related to CVST should be further conducted and the cause should be treated as soon as possible.