Maguire M
Department of Anaesthesia and Perioperative Medicine, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Anaesthesia. 2009 Nov;64(11):1250-3. doi: 10.1111/j.1365-2044.2009.06033.x.
Angelman syndrome is a complex genetic condition involving abnormalities of chromosome 15 in the majority of cases. These defects involve a gene encoding an ubiquitin protein ligase and may be associated with abnormal gamma-aminobutyric acid (GABA)(A) receptor subunits. Angelman syndrome may have profound implications for anaesthesia: potential exists for airway difficulties; refractory bradyarrythmias; and pharmacodynamic unpredictability. A case of an adult with Angelman syndrome undergoing dental work under general anaesthesia is presented. Induction and maintenance of anaesthesia was unremarkable but emergence was complicated by generalised muscular hypertonia and temporary respiratory embarrassment which resolved spontaneously.
安吉尔曼综合征是一种复杂的遗传疾病，大多数病例涉及15号染色体异常。这些缺陷涉及一个编码泛素蛋白连接酶的基因，可能与异常的γ-氨基丁酸（GABA）（A）受体亚基有关。安吉尔曼综合征可能对麻醉有深远影响：存在气道困难、难治性心动过缓以及药效动力学不可预测性的可能性。本文介绍了一例患有安吉尔曼综合征的成年人在全身麻醉下接受牙科治疗的病例。麻醉诱导和维持过程无异常，但苏醒时出现全身肌肉张力亢进和短暂的呼吸窘迫，这些症状随后自行缓解。
