Lenders M B, Martin J J, de Barsy T, Ceuterick C, Marchau M
Acta Neurol Belg. 1986 May-Jul;86(3):152-60.
Five adult patients with the myopathic form of acid maltase deficiency are described. In three, the clinical onset dates back from youth with progressive proximal weakness while in the other two, the first symptoms occur after the age of 20 years. Respiratory insufficiency is a direct cause of death in one young adult male and plays an accessory role in the death of an older female patient with an interauricular septal defect. A unilateral diaphragm paralysis is noted in a third patient. A vacuolar myopathy is easily detected in the young adult patients but minimal or moderate lesions are encountered in other muscles or in the older patients. Electron microscopy of muscle and skin biopsies and the assay of acid maltase on muscle completed by the action of antibodies directed against acid maltase represent much more reliable criteria which will confirm the diagnosis. Therefore, when dealing with the heterogeneous group of limb-girdle myopathies, it is necessary to use all adequate diagnostic methods in order to avoid false negative results. The importance of making a correct diagnosis stems from the fact that the respiratory insufficiency should be recognized in order to try to avoid severe complications.
本文描述了5例成年型酸性麦芽糖酶缺乏症患者。其中3例患者临床起病于青少年时期，表现为进行性近端肌无力；另外2例患者的首发症状出现在20岁以后。呼吸功能不全是1例年轻男性患者的直接死因，在1例患有房间隔缺损的老年女性患者死亡中起辅助作用。第3例患者存在单侧膈肌麻痹。液泡性肌病在年轻成年患者中易于检测到，但在其他肌肉或老年患者中则表现为轻微或中度病变。肌肉和皮肤活检的电子显微镜检查以及通过抗酸性麦芽糖酶抗体作用对肌肉进行的酸性麦芽糖酶检测是更可靠的诊断标准，可确诊该病。因此，在处理肢带型肌病这一异质性群体时，有必要采用所有适当的诊断方法，以避免假阴性结果。正确诊断的重要性在于应认识到呼吸功能不全，以避免严重并发症的发生。
