Multiple Cerebrovascular Insults in Pseudoxanthoma Elasticum.

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.
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