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Journal of the Korean Academy of Rehabilitation Medicine 1994;18(2):34.
A Case of Glycogen Storage Disease Type II Occurred In Childhood (Pompe's Disease)
Kyung Deog Kim, M.D., Gyeong Hee Han, M.D., Ki Eon Jang, M.D., Min Chul Lee, M.D.* , Young Euy Park, M.D.*
Department of Rehabilitation Medicine and *Department of Pathology, Hallym University College of Medicine
소아에서 발생한 당원병 II형(Pompe's Disease) 증례 보고
김경덕, 한경희, 장기언, 이민철*, 박영의*
한림대학교 의과대학 재활의학교실 및 병리학교실*

We describe a case of the juvenile form of glycogen storage disease type II or Pompe's disease, confirmed by muscle biopsy and electrodiagnostic study. This autosomal recessively inherited disease is characterized by the presence of vacuoles of varying size in most muscle fibers. In addition to proximal muscular weakness and hypotonia, the clinical feature include cardiomegaly, hepatomegaly, enlargement of the tongue. Death occurs in 30% of cases in childhood from respiratory muscle weakness.

This glycogen storage disease type II can be divided into three form, such as the severe infantile form, a milder childhood form and adult onset form. EMG findings in Pompe's disease usually show myopathic feature. A muscle biopsy in this case has shown the prominent findings of vacuolar change with degenerated muscle fibers and distorsioning muscle achitecture containing glycogen particles, which revealed glycogen storage disease.

Key Words: Glycogen storage disease, Myopathy, EMG, Pompe's disease
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