Shah Jimil H, Salagre Kaustubh D, Sahay Ravindra Nath, Anand Abhinav
Post Graduate student in General Medicine.
Assistant Professor in General Medicine.
J Assoc Physicians India. 2016 Nov;64(11):76-77.
A 21 year college student came with a history of generalized tonic-clonic seizures. MR Venography revealed the presence of left sigmoid and transverse sinus thrombosis with secondary venous hemorrhagic infarcts. After thorough investigation into cause of thrombosis patient was found to have a heterozygous MTHFR A1298C mutation which was causing cerebral venous sinus thrombosis.
一名21岁的大学生因全身性强直阵挛发作前来就诊。磁共振静脉造影显示左乙状窦和横窦血栓形成，并伴有继发性静脉出血性梗死。在对血栓形成原因进行全面调查后，发现该患者存在杂合型亚甲基四氢叶酸还原酶（MTHFR）A1298C突变，正是该突变导致了脑静脉窦血栓形成。
