Recommended Citation
Elgamil A, Keshavarzi S. Anesthesia for a patient with angelman syndrome undergoing dental rehabilitation. Presented at: Midwest Anesthesia Residents Conference (MARC); April 26, 2025; Indianapolis, IN.
Presentation Notes
Presented at: Midwest Anesthesia Residents Conference (MARC); April 26, 2025; Indianapolis, IN.
Abstract
Introduction: Angelman syndrome (AS) is a rare genetic disorder with a prevalence of 1:52,000 live births. It is characterized by severe developmental disability, craniofacial abnormalities, ataxia, seizures, sleep disturbances, hand flapping, and frequent laughing and smiling. It is mostly caused by a maternal deletion of the ubiquitin-protein ligase gene in chromosome 15. This deletion also affects the gamma-aminobutyric acid (GABA) (A) β3 subunit gene which contributes to the high rate of epilepsy seen in these patients. Due to the rarity of AS, there are no large studies to address whether these patients may have specific anesthetic complications. Case Presentation: A 20-year-old female with a history of AS, morbid obesity (159 cm, 106 kg), and severe intellectual disability was presented for dental rehabilitation under General Anesthesia. Her parents denied any history of seizures. The patient verbalized minimally and was un-cooperative. The physical exam was notable for an enlarged tongue and mandibular prognathism. Initial heart rate was around 75 /minute, arterial blood pressure 120/70 mmHg and SpO2 99%. She was premedicated with intramuscular ketamine 300 mg and midazolam 5 mg and transferred to the operating room after 30 minutes. Intravenous access was established, and intravenous induction of anesthesia was made with propofol 100 mg, fentanyl 50 mcg, lidocaine 100 mg, and rocuronium 50 mg. Mask ventilation was easy, and SpO2 was above 97%. Nasal Endotracheal intubation was easily performed under direct laryngoscopy revealing a Cormack - Lehane Grade I. Immediately after intubation, the heart rate dropped to 35 /minute, Glycopyrrolate 0.4 mg IV was given with a return of the heart rate to baseline in 1 minute. Maintenance of anesthesia was achieved with sevoflurane in an air–oxygen mixture. The surgery lasted for 5 hours and was uneventful, she did not experience any other episodes of bradycardia. The muscle relaxant was reversed with neostigmine and glycopyrrolate, and the patient was smoothly extubated and transferred to the postoperative care unit where she had an uneventful course. She was discharged home the same day. Conclusion: Patients with Angelman syndrome tolerate anesthesia well. Anesthetic considerations include possible difficult airway secondary to craniofacial abnormalities, intellectual disability, cheerful disposition which may confound pain perception, epilepsy, muscular atrophy, vagal tone predominance predisposing to bradycardia, and GABA-A receptor abnormalities which may lead to unpredictable response to benzodiazepines. Patients may benefit from premedication with an anticholinergic to blunt the high vagal tone. 1. Warner, M. E. et al. (2017) Anesth Pain Med 7(5) : e57826 2. Makris, A. et al. (2018) J Clin Anesth 46: 65-66
Type
Oral/Podium Presentation
Affiliations
Advocate Illinois Masonic Medical Center