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J Korean Neurol Assoc. 1992;10(4):559-565.
- A Case of Glycogen Storage Disease Type IIa
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Young-Hoon Kim, M.D., Seung-Yun Chung, Jong-Wan Kim, M.D., Kyung-Tae Whang, M.D., Je-Geun Chi, M.D.
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Department of Pediatrics, College of Medicine, Catholic University, Department of Pathology, Seoul National University
- IIa형 다원병의 1례
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김영훈, 정승연,김종완,황경태,지제근
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가톨릭대학교 소아과. 서울대학교 병리학.
- Abstract
- We experienced a case of glycogen storage disease(type Iia) in a 11 months old girl who was admitted to Pediatric service of Kangnam St. Mary's hospital for work-up of flaccidity and developmental delay. The baby was relatively well until 3 months ol age when she began to have poor sucking and swallowing, and also her crying was weak. The patient has been markedly behind in all her developmental milestones and revealed hypotonia uhich was apparent on ventral and vertical suspensions. The chest X-ray film showed cardiomegaly, and echocardiography was done twice to get a diagnosis of hypertrophic cardiomyopathy. ECG showed biventricular hypertrophy. The brain CT showed no abnormality. Needle EMG showed fibrillation and positive sharp waves typical of a myopathy. Total CPK was 349 IU/L with an increase in fraction of MM band. Light and electronmicroscopic findings of muscle biopsy were compatible with Pompe's disease of infantile type.
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- 초록
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