年轻时中风的罕见病因:一名遗传性出血性毛细血管扩张症患者因矛盾栓塞机制引发的缺血性中风

A. Belopasova, P. S. Shlapakova, L. A. Dobrynina, A. Kadykov
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引用次数: 0

摘要

明确青壮年(18 至 45 岁)缺血性脑卒中(IS)的病因是一项极其困难的任务,因为神经科医生几乎不了解的罕见病因非常常见。其中一个原因是肺动静脉畸形(AVM)导致的矛盾性栓塞,这是遗传性出血性毛细血管扩张症(HHT)的表现之一。诊断与 HHT 相关的肺动静脉畸形和 IS 是一项多步骤的任务,需要采用高科技超声、断层扫描和基因检查等多学科的个性化方法。本文讨论了一名年轻的 HHT 患者通过肺动脉畸形的矛盾性栓塞机制复发 IS 的临床病例;讨论了基础疾病和复发性血管事件的诊断、治疗和预防问题。
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A rare cause of stroke at a young age: ischemic stroke by the mechanism of paradoxical embolism in a patient with hereditary hemorrhagic telangiectasia
Clarification of the aetiology of ischemic stroke (IS) in young adults (aged between 18 and 45 years) is an extremely difficult task, as rare causes that are hardly known to neurologists are very common. One of these causes is paradoxical embolism due to pulmonary arteriovenous malformation (AVM), one of the manifestations of hereditary hemorrhagic telangiectasia (HHT). The diagnosis of HHT-associated pulmonary AVMs and IS is a multistep task that requires a personalized multidisciplinary approach using high-tech ultrasound, tomographic and genetic examination methods. This article discusses the clinical case of a young patient with HHT and recurrent IS through the mechanism of paradoxical embolism from pulmonary AVMs; issues of diagnosis, treatment and prevention of both the underlying disease and recurrent vascular events are discussed.
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