title: Anaesthesia for an adult with Angelman syndrome.
abstract: 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.
authors.affiliation: Department of Anaesthesia and Perioperative Medicine, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. marc_maguire@health.qld.gov.au
authors.forename: M
authors.initials: M
authors.lastname: Maguire
mesh_terms: D000328:Adult; D000768:Anesthesia, General / Q000379:methods*; D017204:Angelman Syndrome / Q000150:complications*; D003729:Dental Care; D005260:Female; D006801:Humans; D009122:Muscle Hypertonia / Q000209:etiology; D012131:Respiratory Insufficiency / Q000209:etiology