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Journal of the Korean Academy of Rehabilitation Medicine 1997;21(6):1224-1230.
Glycogen Storage Disease Type II: A Case Report.
Moon, Jeong Lim , Kang, Sae Yoon , Yang, Seung Han , Choe, Su Jeong , Lee, Youn Soo
1Department of Rehabilitation Medicine, The Catholic University of Korea School of Medicine, Korea.
2Department of Pathology, The Catholic University of Korea School of Medicine, Korea.
당원병 제 2 형 ⁣증례 보고⁣
문정림, 강세윤, 양승한, 최수정, 이연수*
가톨릭대학교 의과대학 재활의학교실 및 임상병리학교실*
Abstract

Glycogen Storage Disease Type II is caused by the deficiency of acid maltase resulting in lysosomal accumulation of glycogen. There are two major clinical syndromes, a severe generalized and invariable fatal disease of infancy, and a myopathy starting in juvenile or adult life.

The clinical and laboratory findings of a patient with Glycogen Storage Disease Type II are presented. The patient, a 17-year-old male, experienced slowly progressive weakness of muscle of the pelvis shoulder girdles and trunk. Muscle biopsy showed vacuolar myopathy and electromyograph showed features of myopathy with fibrillation potentials, positive sharp waves, myotonic discharges, without clinical myotonia at rest, and polyphasic potentials on volition.

Clinical features, histopathologic and electrophysiologic findings of this disease and differential diagnosis were reviewed.

Key Words: Glycogen storage disease type II, Acid maltase deficiency, Limb-girdle weakness, Vacuolar myopathy, Myotonic potentials


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