Two Patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy.
- Author:
Eun Hee KIM
1
;
Jung Min KO
;
Beom Hee LEE
;
Gu Hwan KIM
;
Jin Ho CHOI
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Non-classic infantile Pompe disease;
acid-alpha-glucosidase (GAA);
hypertrophic cardiomyopathy
- MeSH:
Cardiomegaly;
Cardiomyopathy, Hypertrophic;
Glycogen;
Glycogen Storage Disease Type II;
Humans;
Muscle Hypotonia;
Muscle, Skeletal;
Phenotype;
Respiratory Insufficiency
- From:Journal of Genetic Medicine
2009;6(2):161-165
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-alpha-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal muscle. The classic infantile form of Pompe disease is characterized by marked cardiomegaly, respiratory failure and severe generalized hypotonia. Most patients die from cardiorespiratory failure or respiratory infection within the first year or two of life without treatment. A "non-classic" phenotype presents with less severe clinical feature and slow progression of disease. We report two patients with non-classic infantile Pompe disease from one family manifested hypertrophic cardiomyopathy and progressive proximal weakness.
