Papapetropoulos T, Paschalis C, Manda P
J Neurol Neurosurg Psychiatry. 1984 Feb;47(2):213-5. doi: 10.1136/jnnp.47.2.213.
The clinical and laboratory findings of a patient with juvenile acid maltase deficiency are presented. The patient died from respiratory muscle weakness at age 31 years. Muscle biopsy shortly prior to his death showed remarkable vacuolation affecting exclusively type I fibres and mild myopathic changes of both types of muscle fibres, while the muscle biopsy at age 26 years had shown no evidence of acid maltase deficiency.
本文报告了一名青少年型酸性麦芽糖酶缺乏症患者的临床和实验室检查结果。该患者于31岁时死于呼吸肌无力。其死前不久的肌肉活检显示，显著的空泡化仅累及I型纤维，两种类型的肌纤维均有轻度肌病性改变，而其26岁时的肌肉活检未显示酸性麦芽糖酶缺乏的证据。
