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