Campero Leonardo
is a Certified Registered Nurse Anesthetist, and adjunct faculty at Wolford College in Naples, Florida.
AANA J. 2018 Feb;86(1):67-71.
Angelman syndrome (AS) is a rare neurogenetic disorder that results from an abnormality of the maternal chromosome 15. Clinical presentations for AS include developmental delays, seizure disorders, ataxia, truncal hypotonia, scoliosis, structural cardiac abnormalities, hyperactive tendon reflexes, absent speech, and craniofacial anomalies. Patients with AS also may have vagal hypertonia, which can result in refractory bradycardia in the perioperative setting. Mutations of chromosome 15 can lead to abnormalities in γ-aminobutyric acid A (GABA) receptors, through which numerous anesthesia agents mediate their actions. Defects in GABA receptors may result in unpredictable reactions or a resistance to anesthetics. Because of high genetic heterogeneity, no conclusive evidence exists for the most appropriate anesthetic approach for patients with AS. Depending on the patient's AS classification and severity, current literature suggests minimizing the doses of all anesthetic agents. This case report details the anesthesia management of a pediatric patient with AS presenting for otolaryngologic surgery. The 4-year-old boy received general anesthesia with typical anesthetic agents administered at standard pediatric doses without incident. Despite the lack of adverse events in this case, clinicians must be aware of potential anesthetic complications that are unique to patients with AS and should proceed with caution.
天使综合征（Angelman syndrome，AS）是一种罕见的神经遗传性疾病，由母源15号染色体异常引起。AS的临床表现包括发育迟缓、癫痫发作、共济失调、躯干肌张力减退、脊柱侧弯、心脏结构异常、腱反射亢进、失语以及颅面畸形。AS患者还可能出现迷走神经张力亢进，这在围手术期可导致难治性心动过缓。15号染色体的突变可导致γ-氨基丁酸A（GABA）受体异常，众多麻醉药物通过该受体发挥作用。GABA受体缺陷可能导致不可预测的反应或对麻醉药产生耐药性。由于基因异质性高，目前尚无确凿证据表明针对AS患者最适宜的麻醉方法。根据患者的AS分类和严重程度，当前文献建议尽量减少所有麻醉药物的剂量。本病例报告详细介绍了一名因耳鼻喉科手术就诊的AS患儿的麻醉管理情况。该4岁男孩接受了全身麻醉，使用了标准儿科剂量的典型麻醉药物，未发生意外情况。尽管本病例未出现不良事件，但临床医生必须意识到AS患者特有的潜在麻醉并发症，并应谨慎行事。
