Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
Acta Anaesthesiol Scand. 2012 Apr;56(4):520-5. doi: 10.1111/j.1399-6576.2011.02628.x. Epub 2012 Jan 19.
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.
异丙酚是一种广泛用于儿童诱导和维持麻醉以及镇静的麻醉剂。尽管通常被认为是可靠和安全的，但异丙酚的给药偶尔会引起一种潜在致命的并发症，称为异丙酚输注综合征（PRIS）。线粒体功能障碍与 PRIS 的发病机制有关。我们报告了一例患有莱伯遗传性视神经病变（LHON）的成年患者发生 PRIS 的情况。他是与 LHON 相关的三个主要致病性点突变之一 m.3460G>A 突变的携带者。先证者失明，并在严重头部受伤后接受异丙酚镇静。在开始输注异丙酚后 5 天，患者死亡。氧化磷酸化（OXPHOS）系统的复合物 I 活性严重缺乏。我们的观察表明，先天性 OXPHOS 缺陷的成年患者可能会发生暴发性 PRIS，并证实了 PRIS 是由 OXPHOS 系统抑制引起的假设。
