Plötz J
Anaesthesist. 1980 Feb;29(2):94-8.
In connection with malignant hyperthermia the afflicted girl and her blood relations from 4 generations were investigated. Noteworthy in the case histories were fractures following minor traumas of the brother and epilepsy in 3 cases. The serum CK was increased in 6 individuals. The EMG showed alterations in 3 participants which pointed to discrete myopathy. The muscle biopsies of patient and parents were normal under microscope and electron microscope. The findings are consistent to the accepted theories of hereditary mode. Due to inadequate means of predicting the onset, early recognition and treatment of malignant hyperthermia remain essential. Promising prohibitive and curative results have been brought about with Dantrolene in animal experiments.
针对恶性高热，对患病女孩及其四代血亲进行了调查。病历中值得注意的是，其兄弟有轻微外伤后骨折的情况，还有3例癫痫病例。6人的血清肌酸激酶升高。肌电图显示3名参与者有异常，提示存在轻度肌病。患者及其父母的肌肉活检在显微镜和电子显微镜下均正常。这些发现与公认的遗传模式理论相符。由于预测发病的手段不足，恶性高热的早期识别和治疗仍然至关重要。在动物实验中，丹曲林已取得了有前景的预防和治疗效果。
