Francesconi M, Auff E, Ursin C, Sluga E
Wien Klin Wochenschr. 1982 Aug 6;94(15):401-4.
A 31 year-old female with a five year history of muscle weakness, cardiac palpitations and elevation of activity of some serum enzymes of muscular origin, showed signs of the WPW syndrome on ECG, often in combination with grade 2 A-V block. Type II glycogenosis (Pompe's disease) was diagnosed on the basis of the results of physical examination, laboratory findings--especially subtotal deficiency of acid maltase (a-1,4 glucosidase) activity-and morphological aspects of light and electron microscopy of a quadriceps muscle biopsy specimen. To our knowledge the coincidence of such a rarely encountered arrhythmia with glycogenosis type II in an adult has never been reported so far.
一名31岁女性，有5年肌肉无力、心悸病史，一些肌肉源性血清酶活性升高，心电图显示有预激综合征迹象，常合并二度房室传导阻滞。根据体格检查结果、实验室检查结果——尤其是酸性麦芽糖酶（α-1,4-葡糖苷酶）活性几乎完全缺乏——以及股四头肌活检标本的光镜和电镜形态学表现，诊断为II型糖原贮积病（庞贝病）。据我们所知，迄今为止从未报道过成人中这种罕见心律失常与II型糖原贮积病同时出现的情况。
