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Bilateral Jugular Vein and Sigmoid Sinus Thrombosis Related to an Inherited Coagulopathy: An Unusual Presentation

机译:与遗传性凝血病相关的双侧颈静脉和乙状窦血栓形成:一种不常见的表现

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Internal jugular vein thrombosis (IJVT) is a rare condition associated with malignancy, coagulopathy, and trauma. The optimal management of any IJVT must be individualized and depends on the condition of the patient.Case Presentation.We report the case of a 42-year-old woman with a history of a first trimester spontaneous abortion. Apart from a tension-type headache, she had no neurological symptoms. She reported an incidental diagnosis of right-sided IJVT when she was evaluated for hyperthyroidism ultrasonographically. On ultrasonography, we observed bilateral jugular vein thrombosis. The patient was started on oral warfarin. Seven months later, when she was adequately anticoagulated, she developed a second thrombosis. According to the etiological workup, she had a mutation in the homozygous methylene tetrahydrofolate reductase (MTHFR) gene and reduced protein C levels and activity.Conclusion.This report illustrates an unusual presentation of a rare condition. In this case, the etiology was associated with the coagulopathy, which occurred despite adequate anticoagulation.
机译:颈内静脉血栓形成(IJVT)是与恶性肿瘤,凝血病和创伤相关的罕见病。任何IJVT的最佳治疗方法都必须个性化,并取决于患者的病情。病例介绍。我们报道了一名42岁女性,其具有早孕自然流产史。除了紧张型头痛外,她没有神经系统症状。在超声检查中评估甲状腺功能亢进时,她报告了偶然诊断为右侧IJVT。在超声检查中,我们观察到双侧颈静脉血栓形成。该患者开始口服华法林。七个月后,当她接受充分的抗凝治疗时,又发生了第二次血栓形成。根据病因学检查,她的纯合亚甲基四氢叶酸还原酶(MTHFR)基因发生突变,蛋白C水平和活性降低。在这种情况下,病因与凝血病有关,尽管抗凝充分,但仍会发生。

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