Martin K, Schlotter B, Müller-Höcker J, Loeschke K, Pongratz D, Folwaczny C
Medizinische Klinik, Klinikum Innenstadt, Ludwig-Maximilians-Universität, München, Germany.
Z Gastroenterol. 2002 Oct;40(10):885-90. doi: 10.1055/s-2002-35263.
A 26-year-old woman presented with elevated liver enzymes, which were diagnosed two months ago. Examination revealed mild proximal muscle weakness, though the patient herself did not realise any impairment. The abdominal ultrasound and the histology of the liver remained unsuspicious. Muscle biopsy showed vacuolar degeneration, which could be ultrastructurally identified as large deposits of membrane-bound glycogen. The morphological findings prompted biochemical investigations which showed an excess of muscle glycogen. Acid maltase activity was reduced to < 10 % of normal, leading together with the clinical findings to the diagnosis of glycogenosis type II (Pompe's disease) of the adult type. Because of the modest impairment of the patient and the limited therapeutic possibilities, the patient remained thus untreated for.
一名26岁女性，两个月前被诊断为肝酶升高。检查发现有轻度近端肌无力，不过患者本人并未意识到有任何功能障碍。腹部超声和肝脏组织学检查未发现异常。肌肉活检显示有空泡变性，超微结构上可确定为大量膜结合糖原沉积。这些形态学发现促使进行生化检查，结果显示肌肉糖原过多。酸性麦芽糖酶活性降至正常水平的<10%，结合临床发现，诊断为成人型糖原贮积症II型（庞贝病）。由于患者功能障碍较轻且治疗选择有限，因此患者一直未接受治疗。
