Fukushima Taiki, Shimomura Yoshimitsu, Nagaya Satomi, Morishita Eriko, Kawakami Osamu
Neurology, Anjo Kosei Hospital, Anjo, JPN.
Hematology, Kobe City Medical Center General Hospital, Kobe, JPN.
Cureus. 2021 Jun 6;13(6):e15473. doi: 10.7759/cureus.15473. eCollection 2021 Jun.
A 37-year-old woman was admitted to our hospital with involuntary movements. She had no medical or family history of thromboembolism, nor was she on any medication. She showed no impaired consciousness, cranial nerve abnormalities, abnormal breathing, stiff neck or paralysis. Magnetic resonance venography exhibited poor visualization of intracranial vein. The protein C activity level reduced but the protein C antigen level was normal. Genetic analysis revealed a heterozygous mutation in exon 7 c.577-579delAAG, p.Lys193del on protein C gene. She was diagnosed with cerebral venous thrombosis and hereditary protein C deficiency type II. She received heparin in acute phase, and switched to dabigatran in chronic phase. Consequently, she had no recurrence of cerebral venous thrombosis and other complications. Dabigatran might be one of the alternative choices for patients with cerebral venous thrombosis and protein C deficiency.
一名37岁女性因不自主运动入院。她既往无血栓栓塞病史，家族中也无相关病史，且未服用任何药物。她意识无受损，无颅神经异常、呼吸异常、颈部僵硬或瘫痪。磁共振静脉血管造影显示颅内静脉显影不佳。蛋白C活性水平降低，但蛋白C抗原水平正常。基因分析显示蛋白C基因第7外显子存在杂合突变c.577 - 579delAAG，p.Lys193del。她被诊断为脑静脉血栓形成和II型遗传性蛋白C缺乏症。急性期她接受了肝素治疗，慢性期改用达比加群。此后，她未再出现脑静脉血栓形成复发及其他并发症。达比加群可能是脑静脉血栓形成和蛋白C缺乏症患者的替代选择之一。
