A 3-month-old Male With Wheezing

Pompe disease is an autosomal recessive, panethnic glycogen storage disorder with a spectrum of genotypic-phenotypic patterns that results from the deficiency of the enzyme acid a-glucosidase. There are two forms of Pompe disease: infantile-onset and late-onset. The former is a more severe type and is characterized by hypotonia, cardiomegaly, and hepatomegaly. The diagnosis is corroborated by hallmark electrocardiographic changes, as well as findings on echocardiography and muscle biopsy. A multidisciplinary approach, including cardiology, respiratory, occupational and physical therapy, nutrition, and general pediatrics services, is imperative to achieve optimal quality of life. Enzyme replacement therapy has radically transformed the quality of life and survival of the patients who have Pompe disease. Copyright © 2013 by the American Academy of Pediatrics.