Clinical Observations on Seven Patients with Infantile Pompe's Disease

嬰兒型Pompe氏病的臨床觀察－七病例報告－

陳銘仁(Ming-Ren Chen) ； 林炫沛(Shuan-Pei Lin) ； 宋增銓(Tseng-Ceen Sung) ； 許瓊心(Chyong-Hsin Hsu) ； 黃富源(Fu-Yuan Huang) ； 陳逸光(I-Kuan Chen) ； 陸中衡(Jun-Hun Loo) ； 陳碧芳(Be-Fong Chen)

《Acta Paediatrica Sinica》 28卷6期 (1987/12) Pp. 464-469

摘要

本文報告7例嬰兒型Pompe氏病。病嬰年齡從7天到9個月不等。7名病人都有全身肌無力和呼吸道感染的症狀。診斷的方法包括小腿肌肉切片的電子顯微鏡檢（3例），骨骼肌酵素測定（1例），尿液酵素測定（4例），以及白血球酵素測定（3例）。所有病人臨床上均有心衰竭的症狀。心電圖可見重度左心室或雙心室肥大和短PR間隔。胸部X光可見心臟擴大。M型和雙向度形心臟超音波可見心室中隔和心室壁肥厚。7名病人中有2名為親兄弟。另有一名病嬰出生不久即出現心臟衰竭和肌無力，是目前我們所知年齡最小的病例。

並列摘要

We report seven cases of infantile Pompe's disease. Their ages ranged from 7 days to 9 months. All seven patients presented with generalized hypotonia and respiratory infections. The diagnostic methods included electron microscopic examination of calf muscles in three, acid maltase activity assay of skeletal muscle in one, measurement of urine acid maltase activity in four, and determination of leukocyte enzyme activity in three. All of the seven patients had clinical signs of heart failure. Severe left or both ventricular hypertrophy and short P-R intervals were seen on the electrocardiograms. Cardiomegaly was seen on chest X-ray film. Thickened ventricular walls and septa were demonstrated on M-mode and two-dimensional echocardiography. Two of the patients were brothers. One patient presented with heart failure and hypotonia immediately after birth. To our knowledge, he is the youngest reported case.

並列關鍵字

Pompe's disease ； glycogen storage disease ； infant