Pseudoxanthoma elasticum (PXE) is a rare systemic genetic disorder and an uncommon cause of ischaemic and haemorrhagic strokes. Its rarity and variable presentation may delay recognition and diagnosis of the primary disorder or associated conditions. Here, we describe a patient of European ancestry diagnosed with PXE in her 20s who presented in her 50s with a haemorrhagic stroke. Subsequent workup additionally revealed clinically silent ischaemic cerebral infarcts, critical stenosis of the right internal carotid artery and intracranial vasculopathy. Though she had some typical vascular risk factors, they were well-controlled. Antiplatelet therapy has traditionally been avoided in PXE due to increased risk of GI (and potentially retinal and cerebral) haemorrhage, but the medical team opted to start aspirin for secondary stroke prevention because she had no history of GI or retinal bleed, and her risk of ischaemic stroke was considered unacceptably high compared with that of clinically significant haemorrhage. Judicious use of antiplatelet therapy may be relatively safe in carefully selected patients. Anticipatory surveillance and management of the numerous manifestations of this potentially debilitating disorder are also important to preserve function and quality of life.

弹性假黄瘤是一种罕见的系统性遗传疾病，是缺血性和出血性中风的罕见原因。它的稀有性和可变性可能会延迟原发性疾病或相关疾病的识别和诊断。在这里，我们描述了一位在20多岁时诊断为PXE的欧洲血统患者，在50多岁时出现了出血性中风。随后的检查还显示临床无症状的缺血性脑梗死，右颈内动脉严重狭窄和颅内血管病变。尽管她有一些典型的血管危险因素，但它们得到了很好的控制。由于GI（以及潜在的视网膜和脑部）出血风险增加，传统上在PXE中避免使用抗血小板治疗，但是医疗团队选择开始使用阿司匹林预防继发性中风，因为她没有胃肠道疾病或视网膜出血史，与临床上明显的出血相比，缺血性中风的风险被认为高得令人无法接受。在精心挑选的患者中，明智地使用抗血小板治疗可能相对安全。对这种可能使人衰弱的疾病的多种表现形式进行预期的监视和管理对于保持功能和生活质量也很重要。