Yamada Naoto, Tamura Yuuichirou, Ishikawa Kou, Suzuki Tasuku, Ookawa Haruo, Nagata Hirofumi
Department of Anesthesiology, Iwate Medical University, Morioka 020-8505.
Masui. 2011 Apr;60(4):473-5.
We gave general anesthesia to a patient with scoliosis combined with central core disease (CCD). CCD is a slowly progressive autosomal dominant congenital myopathy. CCD is presented typically in infancy with hypotonia and delay of motor development, characterized by predominantly proximal weakness pronounced in the hip girdle. Orthopedic complications are common with congenital dislocation of the hips, scoliosis and foot deformity. CCD is due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene at chromosome 19q13.1, which is also implicated in the malignant hyperthermia (MH). A patient with CCD is at risk of MH, with an abnormal response to suxamethonium and volatile anesthetics. The anesthetist ought to be aware of the diagnosis of CCD and to plan anesthetic management accordingly, avoiding potentially MH-triggering agents. We used total intravenous anesthesia (TIVA) in this case, and he showed no MH symptoms perioperatively. This report demonstrates that anesthesia in a patient with CCD could be successfully maintained with TIVA.
我们对一名患有脊柱侧弯合并中央轴空病（CCD）的患者实施了全身麻醉。CCD是一种缓慢进展的常染色体显性遗传性先天性肌病。CCD通常在婴儿期表现为肌张力减退和运动发育迟缓，其特征主要为近端肌无力，在髋部最为明显。骨科并发症常见于先天性髋关节脱位、脊柱侧弯和足部畸形。CCD是由位于19号染色体q13.1区域的骨骼肌兰尼碱受体（RYR1）基因突变所致，该基因也与恶性高热（MH）有关。患有CCD的患者有发生MH的风险，对琥珀胆碱和挥发性麻醉剂反应异常。麻醉医生应了解CCD的诊断并据此制定麻醉管理方案，避免使用可能引发MH的药物。本例我们采用了全静脉麻醉（TIVA），患者围手术期未出现MH症状。本报告表明，TIVA可成功维持CCD患者的麻醉。
