J Korean Child Neurol Soc.  2007 May;15(1):83-89.

Clinical Characteristics of Childhood Pompe Disease

Affiliations
  • 1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea. chaeped1@snu.ac.kr

Abstract

PURPOSE: Pompe disease is one of the glycogen storage diseases caused by a deficiency of acid alpha-glycosidase. This enzyme defect results in lysosomal glycogen accumulation in many tissues and shows a various spectrum of clinical features from early infantile hypotonia to mild weakness. For the investigation of the clinical characteristics of Pompe disease, we reviewed 6 cases of childhood Pompe disease diagnosed by muscle biopsy and acid alpha-glycosidase assay.
METHODS
We reviewed the medical records of 6 childhood Pompe disease patients in Seoul National University Children's Hospital, retrospectively from January 2001 to October 2006.
RESULTS
The age of the symptom onset was 1 month to 11 years(mean 2.2 years) and the diagnosis was made at the age of 8 months to 14 years(mean 5.3 years). The patients showed delayed motor development, motor weakness, hypotonia, cardiomegaly, hypertrophic cardiomyopathy, hepatomegaly, recurrent pulmonary infections but the severity was very diverse. Liver transaminase and CK levels were elevated in all of the patients. Their muscle biopsy showed the characteristic accumulation of purple colored glycogen granules and the degeneration of myofibers.
CONCLUSION
Childhood Pompe disease had various clinical features and severities depending on the age of onset, organ involvement and the rate of progression. Enzyme replacement therapy may modify the disease courses, so we need to diagnose earlier for the treatment at an optimal time.

Keyword

Childhood Pompe disease; Muscle biopsy; Early diagnosis; Enzyme treatment

MeSH Terms

Age of Onset
Biopsy
Cardiomegaly
Cardiomyopathy, Hypertrophic
Diagnosis
Early Diagnosis
Enzyme Replacement Therapy
Glycogen
Glycogen Storage Disease
Glycogen Storage Disease Type II*
Hepatomegaly
Humans
Liver
Medical Records
Muscle Hypotonia
Retrospective Studies
Seoul
Glycogen
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