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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 y-aminobutyric acid A (GABAA) receptors, through which numerous anesthesia agents mediate their actions. Defects in GABAA 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.
Keywords: Adverse events, Angelman syndrome, happy puppet syndrome, neurogenetic disorder
Angelman syndrome (AS) is a rare neurogenetic disease resulting from an aberration of chromosome 15 (15q11-13), which contains parent-specific genes activated by genetic imprinting.1 The syndrome has an incidence of 1:10,000 to 40,000, and the life expectancy does not typically exceed 15 years.2 Presentations of AS include developmental delays, seizure disorders, absent speech, and frequent involuntary laughter.3 Angelman syndrome can result in anesthetic complications because of airway abnormalities,4 vagal hypertonia leading to refractory bradycardia,5 and mutations of the y-aminobutyric acid A (GABAa) receptors,3 which may affect how these patients are influenced by and process anesthesia. The case report that follows depicts the anesthesia management of a pediatric patient with AS who presented for ear, nose, and throat (ENT) surgery.
Case Report
A 4-year-old boy presented for a tonsillectomy and adenoidectomy with bilateral myringotomy tube placement. He weighed 26.3 kg and was approximately 91 cm tall. He was allergic to dairy, soy, and intravenous (IV) fluids containing glucose. His medical history included chronic tonsillitis and adenoiditis as well as...