| Literature DB >> 28647415 |
Konark Malhotra1, David C Carrington2, David S Liebeskind3.
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.Entities:
Keywords: Pompe; late-onset; restrictive; stroke
Mesh:
Substances:
Year: 2017 PMID: 28647415 DOI: 10.1016/j.jstrokecerebrovasdis.2017.05.032
Source DB: PubMed Journal: J Stroke Cerebrovasc Dis ISSN: 1052-3057 Impact factor: 2.136