Literature DB >> 28647415

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

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.
Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

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


  3 in total

Review 1.  Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.

Authors:  Antonio Toscano; Carmelo Rodolico; Olimpia Musumeci
Journal:  Ann Transl Med       Date:  2019-07

2.  Improved efficacy of a next-generation ERT in murine Pompe disease.

Authors:  Su Xu; Yi Lun; Michelle Frascella; Anadina Garcia; Rebecca Soska; Anju Nair; Abdul S Ponery; Adriane Schilling; Jessie Feng; Steven Tuske; Maria Cecilia Della Valle; José A Martina; Evelyn Ralston; Russell Gotschall; Kenneth J Valenzano; Rosa Puertollano; Hung V Do; Nina Raben; Richie Khanna
Journal:  JCI Insight       Date:  2019-03-07

3.  Renal artery fibromuscular dysplasia in Pompe disease: A case report.

Authors:  Evangelia Pappa; Constantinos Papadopoulos; Philippe Grimbert; Pascal Laforêt; Guillaume Bassez
Journal:  Mol Genet Metab Rep       Date:  2018-07-26
  3 in total

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