title: Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome.
abstract: Propofol is an anesthetic agent widely used for induction and maintenance of anesthesia, and sedation in children. Although generally considered as reliable and safe, administration of propofol can occasionally induce a potentially fatal complication known as propofol infusion syndrome (PRIS). Mitochondrial dysfunction has been implicated in the pathogenesis of PRIS. We report on an adult patient with Leber hereditary optic neuropathy (LHON) who developed PRIS. He was a carrier of the m.3460G>A mutation, one of the major three pathogenic point mutations associated with LHON. The propositus was blind and underwent propofol sedation after severe head injury. Five days after start of propofol infusion, the patient died. The activity of complex I of the oxidative phosphorylation (OXPHOS) system was severely deficient in skeletal muscle. Our observation indicates that fulminate PRIS can occur in an adult patient with an inborn OXPHOS defect and corroborates the hypothesis that PRIS is caused by inhibition of the OXPHOS system.
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
authors.forename: A V
authors.initials: AV
authors.lastname: Vanlander
authors.forename: P G
authors.initials: PG
authors.lastname: Jorens
authors.forename: J
authors.initials: J
authors.lastname: Smet
authors.forename: B
authors.initials: B
authors.lastname: De Paepe
authors.forename: W
authors.initials: W
authors.lastname: Verbrugghe
authors.forename: G G
authors.initials: GG
authors.lastname: Van den Eynden
authors.forename: F
authors.initials: F
authors.lastname: Meire
authors.forename: P
authors.initials: P
authors.lastname: Pauwels
authors.forename: N
authors.initials: N
authors.lastname: Van der Aa
authors.forename: S
authors.initials: S
authors.lastname: Seneca
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: J G
authors.initials: JG
authors.lastname: Okun
authors.forename: R
authors.initials: R
authors.lastname: Van Coster
mesh_terms: D000328:Adult; D018686:Anesthetics, Intravenous / Q000009:adverse effects*; D006801:Humans; D007262:Infusions, Intravenous; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications*; D010085:Oxidative Phosphorylation; D015742:Propofol / Q000009:adverse effects*; D012307:Risk Factors; D013577:Syndrome; D014451:Ubiquinone / Q000378:metabolism
chemical_list: D018686:Anesthetics, Intravenous; D014451:Ubiquinone; D015742:Propofol