Recurrent ischemic events and diffuse white matter disease in patients with pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder of elastic tissue with prominent dermatologic, ocular, and vascular manifestations. Although PXE has been associated with ischemic stroke, the clinical and radiologic features have not been fully characterized. We describe two women with PXE, hypertension, and progressive motor and intellectual deterioration related to multiple strokes and transient ischemic attacks beginning at ages 50 and 56. Magnetic resonance imaging in both patients showed widespread and multiple punctate ischemic vascular lesions with diffuse white matter involvement. Although brain infarction in PXE may result from a variety of mechanisms, our patients show the association of this disorder with severe, predominantly small-vessel occlusive disease.