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JAK2 阳性骨髓增殖性肿瘤表现为卒中、复发性 TIA 和孤立性动眼神经麻痹。

JAK 2 positive myeloproliferative neoplasm presenting as stroke, recurrent TIA and isolated third nerve palsy.

机构信息

Stroke Medicine, New Cross Hospital, Wolverhampton, UK

Stroke Medicine, New Cross Hospital, Wolverhampton, UK.

出版信息

BMJ Case Rep. 2021 Jun 10;14(6):e242270. doi: 10.1136/bcr-2021-242270.

DOI:10.1136/bcr-2021-242270
PMID:34112633
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8194324/
Abstract

A man in his early 40s with no significant vascular risk factors was managed within a period of 6 months for recurrent vascular events: ischaemic stroke, transient ischaemic attack and isolated third nerve palsy. He was extensively investigated throughout the course of illness. The only potential aetiological factor identified was a positive janus kinase 2 (JAK 2) mutation after screening on account of mildly elevated platelet count noted during his most recent admission. Bone marrow aspiration confirmed essential thrombocythaemia. He was started on hydroxycarbamide and has remained relatively symptom free since then.This case reiterates the known associations between thrombosis and JAK 2 mutation even without overt myeloproliferative neoplasms. It also highlights the need for specialists in stroke to consider screening for JAK 2 mutation in a young patient with cryptogenic stroke with or without polycythemia or thrombocytosis.

摘要

一名 40 岁出头的男子,无明显血管危险因素,在 6 个月内反复发作血管事件:缺血性中风、短暂性脑缺血发作和孤立性动眼神经麻痹。在整个病程中,他进行了广泛的检查。唯一确定的潜在病因是最近一次入院时发现血小板计数轻度升高,经筛查后发现 janus 激酶 2(JAK 2)阳性突变。骨髓抽吸证实为原发性血小板增多症。他开始服用羟基脲,此后一直相对无症状。本病例再次证实了血栓形成与 JAK 2 突变之间的已知关联,即使没有明显的骨髓增生性肿瘤。它还强调了中风专家需要考虑对伴有或不伴有红细胞增多症或血小板增多症的隐匿性中风的年轻患者进行 JAK 2 突变筛查。

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本文引用的文献

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Teaching NeuroImages: Stroke presenting with isolated superior branch of cranial nerve III palsy.
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Pathogenesis and Management of Thrombotic Disease in Myeloproliferative Neoplasms.骨髓增殖性肿瘤血栓性疾病的发病机制与治疗管理。
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Cerebrovascular events as presenting manifestations of Myeloproliferative Neoplasm.脑血管事件作为骨髓增殖性肿瘤的首发表现
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Neurology. 2015 Sep 15;85(11):e85-7. doi: 10.1212/WNL.0000000000001927.
8
A Comparison of Atrial Fibrillation Monitoring Strategies After Cryptogenic Stroke (from the Cryptogenic Stroke and Underlying AF Trial).隐源性卒中后房颤监测策略的比较(来自隐源性卒中和潜在房颤试验)
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In contemporary patients with polycythemia vera, rates of thrombosis and risk factors delineate a new clinical epidemiology.在当代真性红细胞增多症患者中,血栓形成率和风险因素描绘出一种新的临床流行病学特征。
Blood. 2014 Nov 6;124(19):3021-3. doi: 10.1182/blood-2014-07-591610.
10
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