Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

被引：10

作者：

Del Gaizo, Andrew ^{[1
]}

Banerjee, Sima ^{[2
]}

Terk, Michael ^{[3
]}

机构：

[1] Emory Univ, Sch Med, Atlanta, GA 30322 USA

[2] Emory Univ, Sch Med, Musculoskeletal Radiol Dept, Atlanta, GA 30322 USA

[3] Emory Univ, Sch Med, Div Musculoskeletal Imaging, Atlanta, GA 30322 USA

来源：

SKELETAL RADIOLOGY | 2009年 / 38卷 / 12期

关键词：

Adult onset glycogen storage disease type II; Pompe disease; Acid maltase deficiency; Glycogenosis type II; Magnetic resonance (MR) images; ACID MALTASE DEFICIENCY; ENZYME REPLACEMENT THERAPY; HUMAN ALPHA-GLUCOSIDASE; SKELETAL-MUSCLE; RABBIT MILK; MRI;

D O I：

10.1007/s00256-009-0797-4

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

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 and Leslie. 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 adult onset GSDII, along with key Magnetic Resonance (MR) images.

引用

页码：1205 / 1208

页数：4

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