Mattle H, Jerusalem F, Nolte J, Schollmeyer P
Schweiz Med Wochenschr. 1977 Apr 2;107(13):437-42.
Two sisters with exercise-induced myalgias, muscular weakness and contractures are reported. Neurologic and psychiatric findings were normal, nor did electromyography, serum enzymes and ischemic forearm exercise test reveal specific findings. Under the light microscope multiple muscle fibers contained small vacuoles which stained positive with Oil Red O. No further information resulted from histochemical examinations. In the more seriously affected patient morphometric analysis of electronmicrographs showed a tenfold increase of fat content in comparison to normal controls. Alterations in the enzymatic activities could be demonstrated in glycogenolysis, glycolysis and in fat metabolism, but there were no previously described enzyme defects such as phosphorylase deficiency, phosphofructokinase deficiency, phosphohexoisomerase inhibitor, carnitine or carnitine-palmityltransferase deficiency. Myopathy with lactic acidosis, prolonged muscular relaxation due to deficient reabsorption of sarcoplasmic calcium in the tubular system and dyskalemic paralysis can be ruled out on the basis of the clinical signs. This myopathy may be due to an as yet unknown metabolic disturbances.
报道了两例患有运动诱发性肌痛、肌无力和挛缩的姐妹。神经学和精神病学检查结果正常，肌电图、血清酶和缺血性前臂运动试验也未发现特异性结果。光学显微镜下可见多个肌纤维含有小空泡，油红O染色呈阳性。组织化学检查未获得更多信息。在病情较重的患者中，电子显微镜形态计量分析显示脂肪含量比正常对照增加了10倍。糖原分解、糖酵解和脂肪代谢中的酶活性存在改变，但不存在先前描述的酶缺陷，如磷酸化酶缺乏、磷酸果糖激酶缺乏、磷酸己糖异构酶抑制、肉碱或肉碱棕榈酰转移酶缺乏。根据临床症状可排除伴有乳酸酸中毒的肌病、由于肾小管系统中肌浆钙重吸收不足导致的肌肉松弛延长和低钾性麻痹。这种肌病可能是由于一种尚不清楚的代谢紊乱所致。
