Case Series of Anesthetic Management of Gene Therapy in Children With Aromatic L-Amino Acid Decarboxylase Deficiency.

Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare life-threatening inborn error of neurotransmitter biosynthesis. It is characterized by deficient biosynthesis of neurotransmitters dopamine and serotonin, leading to catecholamines deficiency and sympathetic deprivation, while the parasympathetic system remains functional. Since 2012, gene therapy has led to clinical improvements in symptoms and motor function with a severe phenotype. General anesthesia of children with AADC deficiency is challenging.

Aim: Describe prolonged anesthesia management of children with aromatic L-amino acid decarboxylase deficiency undergoing stereotactically guided gene therapy.

Methods: Prospective reporting of epidemiologic and anesthetics data of four children consecutively undergoing magnetic resonance-guided direct delivery of an AADC vector for gene therapy under general anesthesia.

Results: General anesthesia was initiated with sevoflurane and ketamine and rocuronium was the neuromuscular blocking agent of choice throughout the procedures. Intraoperative hemodynamic monitoring included an arterial line. All children required low doses of diluted norepinephrine during the intraoperative period. No dysautomic episodes as well as no episode of severe hypotension and no severe hypoglycemia were reported throughout the procedures. Vasopressor support was discontinued for all children at the end of the procedures. Moreover, no peroperative and postoperative effects secondary to AADC vector injection were noted.

Conclusion: Using an anesthetic plan based on atropine, ketamine, sevoflurane, and a titrated infusion of norepinephrine, prolonged anesthesia appeared to be safe and reproductible in this population.