Restrictive Arteriopathy in Late-Onset Pompe Disease: Case Report and Review of the Literature

Abstract

Late-onset Pompe disease (LOPD) is an adult type of classical Pompe disease and presents without cardiomyopathy. Neuroimaging in LOPD is typically limited to posterior circulation and involves dilative arteriopathy, especially dolichoectasia and intracranial aneurysms. We report an interesting case of an established diagnosis of asymptomatic LOPD in a young man with a restrictive-variant pattern in posterior vasculature. We discuss the clinical presentation, neuroimaging, existing literature, and prognosis in vascular variants of LOPD.

Keywords: Pompe; late-onset; restrictive; stroke.