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快速进展性认知障碍:JAK2 V617F阳性原发性骨髓纤维化所致脑静脉血栓形成的一种不寻常表现:病例报告

Rapidly progressive cognitive impairment: an unusual presentation of cerebral venous thrombosis caused by JAK2 V617F-positive primary myelofibrosis: A case report.

作者信息

Jin Chongyao, Pu Jiali, Zhou Zhijian, Chen Xia, Wu Jimin, Zhang Baorong

机构信息

Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou.

Department of Neurology, Affiliated Shaoxing Hospital of Traditional Chinese Medicine, Zhejiang Chinese Medical University, Shaoxing, Zhejiang.

出版信息

Medicine (Baltimore). 2020 Aug 21;99(34):e21757. doi: 10.1097/MD.0000000000021757.

Abstract

RATIONALE

Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition, which mainly manifests as headaches, seizures, and focal neurological deficits. JAK2 mutation in myeloproliferative diseases increases the risk of CVT.

PATIENT CONCERNS

This 40-year-old woman suffered from rapidly progressive cognitive impairment and limb weakness. Her symptoms worsened while being treated with mannitol with the diagnose of cerebral hemorrhage.

DIAGNOSIS

The patient was diagnosed with CVT and multiple intracranial hemorrhage caused by JAK2 V617F mutation-positive primary myelofibrosis by neuroimage and whole-exome sequencing.

INTERVENTION

She received low-molecular-weight heparin sodium 3800 IU twice a day followed by oral anticoagulant therapy.

OUTCOMES

The patient showed full recovery from limb weakness and in the follow-up period she noticed no change in her memory.

LESSONS

Clinicians should be aware of the possibility of the JAK2 V617F mutation in CVT patients without known causes or risk factors.

摘要

理论依据

脑静脉血栓形成(CVT)是一种罕见的脑血管疾病,主要表现为头痛、癫痫发作和局灶性神经功能缺损。骨髓增殖性疾病中的JAK2突变会增加CVT的风险。

患者情况

这名40岁女性患有快速进展的认知障碍和肢体无力。在诊断为脑出血并接受甘露醇治疗期间,她的症状恶化。

诊断

通过神经影像学和全外显子组测序,该患者被诊断为JAK2 V617F突变阳性的原发性骨髓纤维化所致的CVT和多发性颅内出血。

干预措施

她接受了低分子量肝素钠3800国际单位,每日两次,随后进行口服抗凝治疗。

结果

患者肢体无力完全恢复,在随访期间她的记忆力没有变化。

经验教训

临床医生应意识到在无已知病因或危险因素的CVT患者中存在JAK2 V617F突变的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cba1/7447497/f37b6a15add3/medi-99-e21757-g001.jpg

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