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JAK2-V617F突变且无明显骨髓增殖性疾病的矢状窦血栓形成

Sagittal sinus thrombosis in JAK2-V617F mutation without overt myeloproliferative disorder.

作者信息

Bhand Prashant Ramesh, Karde Supriya Ramesh, Ramesh Nagabathula

机构信息

Department of General Medicine, Midland Regional Hospital, Portlaoise, Ireland.

Department of Radiology, HSE, Portlaoise, Laois, Ireland.

出版信息

BMJ Case Rep. 2017 Feb 22;2017:bcr2016218298. doi: 10.1136/bcr-2016-218298.

DOI:10.1136/bcr-2016-218298
PMID:28228434
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5337645/
Abstract

We describe a case of a man aged 41 years who presented with a history of generalised headaches for 1 week and an acute episode of tonic-clonic seizures. He had no history of medical illness, was non-smoker, with an extensive family history of haematological disorders. Initial CT brain with contrast did not show any abnormalities in brain parenchyma. X-ray and CT right shoulder showed shoulder dislocation secondary to trauma associated with seizure prior to hospital admission. Subsequently, MRA and MRV brain was arranged, which revealed extensive expansible occlusive filling defect dominating the middle of superior sagittal sinus with left frontal cortical and subcortical acute oedema. He was promptly started on anticoagulation therapy. Considering the unusual site and unprovoked nature of thrombosis, further investigations including JAK2 mutation were arranged which revealed latent myeloproliferative disorder. He was referred to haematology services for further follow-up and monitoring of latent myeloproliferative disorder.

摘要

我们报告一例41岁男性病例,该患者有1周的全身性头痛病史,并出现一次强直阵挛性癫痫急性发作。他无既往病史,不吸烟,有广泛的血液系统疾病家族史。初次增强头颅CT未显示脑实质有任何异常。右肩部X线和CT显示,入院前因癫痫发作相关创伤导致肩关节脱位。随后,安排了脑部MRA和MRV检查,结果显示广泛的可扩张性闭塞性充盈缺损,主要位于上矢状窦中部,并伴有左侧额叶皮质和皮质下急性水肿。他立即开始接受抗凝治疗。考虑到血栓形成的部位不寻常且无诱因,安排了包括JAK2突变在内的进一步检查,结果显示存在潜在的骨髓增殖性疾病。他被转介至血液科进一步随访和监测潜在的骨髓增殖性疾病。

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Cerebral venous thrombosis-a primer for the haematologist.脑静脉血栓形成——血液科医生入门指南
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Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis.分子注释的原发性血小板增多症、真性红细胞增多症和骨髓纤维化的长期生存及原始细胞转化
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