RyR1基因突变先天性肌肉病患儿术后恶性高热诊疗案例

Diagnosis and treatment of postoperative malignant hyperthermia in a pediatric patient with congenital myopathy due to RyR1 gene mutations

患儿,男性,年龄14岁,主因"颈背部畸形、活动受限7年,进食及呼吸困难10月余"入院。诊断为颈椎前凸畸形;蓝尼定受体-1(RyR1)基因相关肌肉病,多微小轴空病可能性大;恶性高热易感者。在丙泊酚全凭静脉麻醉下行颈椎后路矫形术。麻醉及手术过程中生命体征平稳,手术时长10 h,术毕入ICU。患儿苏醒期突发全身肌束颤动,体温骤升至最高39.4℃,严重酸中毒、高碳酸血症,血肌酸激酶、血/尿肌红蛋白逐渐升高;恶性高热临床评分63分,明确并发恶性高热诊断。采用静脉输注丹曲林钠,联合物理降温、纠正酸中毒及电解质紊乱、碱化尿液、间断行血液滤过及血浆置换,治疗心律失常及谵妄。患儿痊愈出院,转归良好。

A 14-year-old male pediatric patient was admitted to the hospital mainly because of neck and back deformity,with limited activity for 7 yr,dysphagia and short of breath for more than 10 months.He was diagnosed with cervical lordosis deformity,RyR1 gene-related myopathy,high possibility of multi-minicore disease and being susceptible to malignant hyperthermia.Posterior cervical orthopedic internal fixation surgery was successfully performed under total intravenous anesthesia with propofol.The vital signs were stable during anesthesia and operation which lasted for 10 h.The patient was admitted to intensive care unit after the uneventful operation.When emerging from general anesthesia,the patient suddenly presented with symptoms of muscular fasciculation in the head,face,trunk and limbs,along with elevated body temperature as high as 39.4℃,severe acidosis and hypercapnia,meanwhile,the blood creatine kinase,blood myoglobin and urinary myoglobin gradually increased.The patient was diagnosed with malignant hyperthermia based on the clinical grading scale score of 63.Dantrolene sodium was infused intravenously,combined with multiple treatments such as physical cooling,correction of acidosis and electrolyte disturbance,alkalization of urine,intermittent hemofiltration and plasma exchange.The arrhythmia and delirium were treated symptomatically.The pediatric patient was fully recovered and discharged with good outcomes.