Perioperative Care of a Child With Combined Oxidative Phosphorylation Deficiency 6: Total Intravenous Anesthesia With Remimazolam

Abstract

Combined oxidative phosphorylation deficiency 6 (COXPD6) is a severe mitochondrial encephalomyopathy resulting from a mutation in the X-linked apoptosis-inducing factor mitochondrion-associated 1 (AIFM1) gene. The AIFM1 gene located on chromosome Xq26.1, encodes apoptosis inducing factor (AIF), a flavin adenine dinucleotide (FAD)-dependent nicotinamide adenine dinucleotide (NADH) oxidoreductase, which is involved in the process of oxidative phosphorylation and mitochondrial-derived programmed cell death in the nucleus. COXPD6 patients have significant end-organ involvement of the central nervous, peripheral nervous, respiratory, and gastrointestinal systems, manifested by seizures, hypotonia, psychomotor delay, muscle weakness, and wasting. We present an 11-year-old child with AIFM1-related COXPD6 who underwent posterior spinal fusion for progressive neuromuscular kyphoscoliosis. We explore the genetic history of this mitochondrial disorder, review a detailed anesthetic approach to perioperative management including use of the novel benzodiazepine, remimazolam, and discuss anesthetic considerations in these patients.