Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
Advanced Center of Stroke, Beijing Institute for Brain Disorders, Beijing, 100053, China.
BMC Neurol. 2024 Oct 12;24(1):386. doi: 10.1186/s12883-024-03913-8.
Cerebral venous sinus thrombosis (CVST) is a rare but potentially life-threatening subtype of stroke. Prompt and appropriate anticoagulation is crucial for improving the prognosis of CVST and preventing its recurrence. Identifying the underlying cause of CVST is decisive for guiding anticoagulant selection and determining treatment duration.
A 50-year-old man presented with a 35-day history of headache, nausea, vomiting, and blurred vision. Digital subtraction angiography performed at another facility revealed CVST. A contrast-enhanced black-blood MRI at our center confirmed the diagnosis, which was supported by a high intracranial pressure of 330mmHO. Laboratory tests showed elevated leukocytes and platelet counts, raising suspicion of an underlying myeloproliferative neoplasms (MPNs). A bone marrow biopsy demonstrated increased megakaryocytes and granulocytes, and genetic testing identified the presence of the Janus kinase 2 V617F (JAK2 V617F) mutation, leading to a diagnosis of pre-primary myelofibrosis (pre-PMF). During hospitalization, anticoagulation with nadroparin calcium and fibrinolytic therapy were initiated. Upon discharge, rivaroxaban and aspirin were prescribed to prevent CVST recurrence and arterial thrombosis.
This case highlights the importance of recognizing dynamic changes in routine blood tests that may link CVST to underlying hematological disorders. The JAK2 mutation is not only associated with MPNs but also increases the risk of thrombosis, including CVST. Further investigation is warranted to better understand the mechanisms by which JAK2 mutations contribute to thrombosis and to explore the potential benefits of JAK2 inhibitors in reducing this risk.
脑静脉窦血栓形成（CVST）是一种罕见但潜在危及生命的脑卒中亚型。及时、适当的抗凝治疗对于改善 CVST 的预后和预防其复发至关重要。确定 CVST 的潜在病因对于指导抗凝药物的选择和确定治疗持续时间至关重要。
一名 50 岁男性，因头痛、恶心、呕吐和视力模糊 35 天就诊。另一家医疗机构的数字减影血管造影显示 CVST。我院中心进行的增强黑血 MRI 证实了这一诊断，同时伴有颅内压升高至 330mmHO。实验室检查显示白细胞和血小板计数升高，提示存在潜在的骨髓增殖性肿瘤（MPNs）。骨髓活检显示巨核细胞和粒细胞增多，基因检测发现存在 Janus 激酶 2 V617F（JAK2 V617F）突变，导致原发性骨髓纤维化前期（pre-PMF）的诊断。住院期间，开始使用那屈肝素钙进行抗凝和溶栓治疗。出院时，开了利伐沙班和阿司匹林以预防 CVST 复发和动脉血栓形成。
本病例强调了认识常规血液检查中动态变化的重要性，这些变化可能将 CVST 与潜在的血液系统疾病联系起来。JAK2 突变不仅与 MPNs 相关，而且增加了包括 CVST 在内的血栓形成风险。需要进一步研究以更好地了解 JAK2 突变导致血栓形成的机制，并探索 JAK2 抑制剂在降低这种风险方面的潜在益处。
