Case reportMultiple Cerebrovascular Insults in Pseudoxanthoma Elasticum
Introduction
Pseudoxanthoma elasticum (PXE) is a rare systemic disease with variable features, including stroke. Here, we describe a patient with PXE who developed multiple cerebrovascular pathologies decades after her diagnosis and was successfully treated with antiplatelet therapy.
Section snippets
Case report
A 53 year old lady of European ancestry developed transient right hemiparesis, right hemibody paraesthesias and sensory loss. Computed tomography identified a left thalamocapsular haemorrhage (Fig. 1). There was no evident vessel occlusion, the infarcted area did not extend beyond the haemorrhage, the associated oedema was limited and did not follow a vascular territory nor extend to the cortex. These characteristics are consistent with haemorrhagic stroke, not haemorrhagic transformation of an
Discussion
Stroke is a major cause of death and disability globally. Smoking, hypertension, diabetes, obesity, hyperlipidaemia, a sedentary lifestyle and unhealthy diet cause most ischaemic strokes. But there is increasing recognition of rare genetic causes like PXE, particularly in younger people and those with minimal or well-controlled vascular risk factors. Under-recognition of these uncommon aetiologies may delay diagnosis.2 PXE causes mineralisation and degeneration of elastic fibres.3, 4, 5
Conclusion
Cerebrovascular manifestations may occur several decades after initial diagnosis of PXE. Affected individuals can have a plethora of concurrent cerebrovascular pathologies. Clinical suspicion for PXE underlying cerebrovascular disease should be high in relatively young people, or those with minimal or well-controlled vascular risk factors and relevant ophthalmologic, dermatologic, gastroenterologic or family histories (including consanguinity). Proactive surveillance is indicated in probands
Acknowledgment
The author wishes to thank Dr. Bradford Worrall.
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Cited by (5)
Neurovascular Syndromes
2022, Neurosurgery Clinics of North AmericaCitation Excerpt :The blood vessels of a patient with PXE are not brittle despite calcification of the intima and media.70 Although antiplatelet therapy is relatively contraindicated in PXE due to the increased risk of GI bleed, the benefits of lowering stroke risk with antiplatelet therapy may outweigh the risks of GI bleed in certain patients.68,71,72 Future options may include gene editing; however, currently there is no cure currently for PXE.66
Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke
2021, Journal of Stroke and Cerebrovascular DiseasesCitation Excerpt :On the other hand, to date, there are no strong evidences on management of acute ischemic stroke and prevention strategies in PXE patients. Recent reports of the safety and utility of these medicines in stroke care, including intravenous thrombolytics, may reflect a shift from the traditional avoidance of these drugs in PXE toward general standards of care.17–19 Accordingly, we suggest that, in PXE patients carrying a high prothrombotic risk profile, prophylaxis with antiplatelet or anticoagulant should be considered after carefully assessment of the haemorrhagic risk, especially in patients with high ocular lesions load.
A case of a heterozygous ABCC6 mutation showing recurrent ischemic strokes and intracranial hemorrhages
2022, Neurology and Clinical NeuroscienceAssociation Between Pseudoxanthoma Elasticum and Bleeding
2022, SKIN: Journal of Cutaneous MedicineVascular Effects of Pseudoxanthoma Elasticum
2021, SKIN: Journal of Cutaneous Medicine