Ohkoshi N, Yoshizawa T, Mizusawa H, Shoji S, Toyama M, Iida K, Sugishita Y, Hamano K, Takagi A, Goto K
Department of Neurology, University of Tsukuba, Japan.
Neuromuscul Disord. 1995 Jan;5(1):53-8. doi: 10.1016/0960-8966(94)e0026-5.
We present a 17-year-old boy with Becker muscular dystrophy (BMD) who developed hyperthermia and heart failure after general anesthesia. He presented clinical features of malignant hyperthermia (MH), and had masseter spasm and elevated body temperature (38.7 degrees C) with very high serum CK activity (107,000 IUl-1). Dystrophin tests confirmed a clinical diagnosis of BMD in the patient, i.e. faint and patchy immunostaining pattern of skeletal muscle, truncated dystrophin protein and a deletion of exons 3 and 4 of the dystrophin gene. To inquire into the mechanism of MH associated in the patient, we tested caffeine contracture reaction by the skinned fiber method. We found an increased sensitivity to caffeine only in type 1 muscle fibers. The rate of Ca(2+)-induced Ca2+ release (CICR) was normal, suggesting that the mechanism of "MH" observed in our patient with BMD is not the same as that of classical MH. A possible mechanism might be related to derangements of the sarcoplasmic reticulum membrane in BMD, which sensitize the membrane to caffeine or other agents.
我们报告一名17岁患有贝克肌营养不良症(BMD)的男孩,其在全身麻醉后出现高热和心力衰竭。他表现出恶性高热(MH)的临床特征,出现咬肌痉挛和体温升高(38.7摄氏度),血清肌酸激酶活性极高(107,000 IU l-1)。肌营养不良蛋白检测证实该患者临床诊断为BMD,即骨骼肌免疫染色模式微弱且呈片状、肌营养不良蛋白截短以及肌营养不良蛋白基因外显子3和4缺失。为探究该患者发生MH的机制,我们采用皮肤纤维法检测咖啡因挛缩反应。我们发现仅在1型肌纤维中对咖啡因的敏感性增加。钙诱导的钙释放(CICR)速率正常,这表明我们患有BMD的患者中观察到的“MH”机制与经典MH不同。一种可能的机制可能与BMD中肌浆网膜的紊乱有关,这种紊乱使膜对咖啡因或其他药物敏感。