Walker Robert W M, Briggs Geraint, Bruce James, Fletcher Joan, Wraith E D
Department of Anaesthesia, Manchester Children's Hospital, Manchester, UK.
Paediatr Anaesth. 2007 Jul;17(7):697-702. doi: 10.1111/j.1460-9592.2007.02196.x.
Pompe's disease or glycogen storage disease type II is a genetic disorder affecting skeletal and cardiac muscle. The infantile form is associated with gross hypertrophic cardiomegaly and death in the early years. General anesthesia is associated with potential major morbidity in these patients. We present our experience of regional anesthetic blocks used in five patients with the infantile form of glycogen storage disease type II with and without sedation for 11 surgical procedures during a clinical trial of replacement therapy for this condition. Both femoral nerve blockade and caudal epidural blockade were used with good result. The relative merits of the type of block are discussed in addition to the choice of sedation and risks of general anesthesia. The avoidance of general anesthesia in the newly presenting patient with Pompe's disease may reduce potential morbidity until enzyme replacement has been established.
庞贝氏病或糖原贮积症II型是一种影响骨骼肌和心肌的遗传性疾病。婴儿型与严重的肥厚性心脏肥大及早年死亡有关。全身麻醉在这些患者中可能会带来潜在的重大并发症。在一项针对该疾病替代疗法的临床试验中，我们介绍了对5例婴儿型糖原贮积症II型患者进行区域麻醉阻滞的经验，这些患者在接受11次外科手术时使用或未使用镇静剂。股神经阻滞和骶管硬膜外阻滞均被采用，效果良好。除了镇静剂的选择和全身麻醉的风险外，还讨论了阻滞类型的相对优点。对于新诊断的庞贝氏病患者，避免全身麻醉可能会在建立酶替代治疗之前降低潜在的并发症。
