Abstract

NM-371

Anesthesia for a Patient with Aicardi-Goutières Syndrome

Swenson Schalkwyk A, Agarwal R
Lucile Packard Children's Hospital Stanford, Palo Alto, California, United states

Introduction:
A 14 month, 7.6 kg female with Aicardi-Goutières Syndrome (AGS) presented for laparoscopic gastrostomy placement. Aicardi and Goutières described an early-onset encephalopathy with brain atrophy, basal ganglia calcification, cerebral white matter abnormalities, and elevated cerebrospinal fluid (CSF) lymphocytes. Despite many anesthetic concerns, there has not been a published case report of anesthesia for a patient with this rare syndrome.

Aicardi-Goutières:
Laboratory findings include elevated CSF neopterin, tetrahydrobiopterin, and interferon-alpha. Clinical findings include microcephaly, hypotonia, irritability, blindness, nystagmus, feeding difficulty, seizure, startle reflex, and chilblain-like lesions. Patients with AGS may also have autoimmune-like symptoms, including hyperpyrexia, hepatosplenomegaly, thrombocytopenia, glaucoma, hypothyroidism, hemolytic anemia, insulin-dependent diabetes mellitus, cardiomyopathy, SIADH, and peripheral neuropathy.

Discussion:
AGS's effect on anesthetic response is unknown. Ketamine was avoided with the elevated risk of seizure. Intravenous anesthesia was used as her parents had heard of flairs after volatile anesthetic. Remifentanil, acetaminophen, ketorolac, and local infiltration were given. Succinylcholine was avoided given low muscle tone and likelihood of hyperkalemic response. The patient had no twitches 30 minutes after 0.4mg/kg rocuronium. It was reversed with 4mcg/kg sugammadex.

The syndrome’s microcephaly and micrognathia raise concern for difficult airway. Low muscle tone, gastroesophageal reflux, and characteristic anatomic features increase the risk of aspiration, pneumonia, respiratory insufficiency, and obstructive sleep apnea.

Patients with AGS have hypotonia and may develop contractures. They also often have chilblain-like skin lesions. Careful inspection and positioning is essential to avoid pressure and injury.

AGS is associated with insulin-dependent diabetes, hypothyroidism, thermal dysregulation, and thrombocytopenia. Parents should be asked about associated symptoms and labs reviewed.

Conclusion and lessons learned:
The patient quickly returned to her usual neurologic state and behavior and was discharged home postoperative day two after monitoring for refeeding syndrome.

Without any published cases of anesthesia for patients with AGS, concerning features were identified and lessons learned about the response of patients with AGS to anesthesia. Avoiding long-acting opioid allowed for rapid restoration of baseline neurologic function. Neuromuscular blockade had a prolonged duration of action in this case, and sugammadex was used without apparent complication. This patient underwent general anesthesia safely, but more published cases and research are necessary to inform anesthetic plans for patients with AGS.

Aicardi J, F Goutières. “A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.” Ann Neurol. 1984;15:49-54.
Crow, Y, N. Manel. “Aicardi-Goutieres syndrome and the type I interferonopathies.” Nat Rev Immunol. 2015;15:429-40.
Orcesi, S, L Piana, R and E. Fazzi. “Aicardi-Goutières syndrome.” Br Med Bull. 2009;89(1):183-201.