Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.
case_report · Level V
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- Record sourced from PubMed, PMID 19771425.
- Also identified by DOI 10.1007/s00256-009-0797-4.
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Abstract
Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity (Tinkle andLeslie. GeneReviews, 2008. http://www.genetests.org). The condition is often classified by age of presentation,with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adulto nset GSDII, along with key Magnetic Resonance (MR) images.
Medical subject headings
- Glycogen Storage Disease Type II
- Magnetic Resonance Imaging