Anesthesia in a child with suspected peroxisomal disorder

Abstract

We present the case of an 8‑year-old female child with suspected peroxisomal disorder requiring general anesthesia for adenotomy, paracentesis and brainstem-evoked response audiometry. Peroxisomes are small intracellular organelles that catalyse key metabolic reactions. Peroxisomal disorders are a heterogeneous group of rare genetic diseases. Anesthesia can be challenging as adrenal insufficiency, mental retardation, muscle weakness, risk of pulmonary aspiration, airway complications, seizure disorders and altered pharmacokinetics and pharmacodynamics can occur in these patients but guidelines for anesthesia do not exist due to the heterogeneity and rarity of these diseases and case reports are rare. Anesthesia was induced by sevoflurane via a face mask, followed by remifentanil and rocuronium for oral intubation after intravenous access was obtained. Anesthesia was maintained with sevoflurane and remifentanil. Dexamethasone was given for prophylaxis of postoperative nausea and vomiting as well as perioperative adrenal crises. Piritramide was given for postoperative analgesia. With this approach anesthesia was uneventful. The trachea was extubated with the patient awake and she was taken to the recovery room in a stable condition. The classification and breadth of clinical manifestations of peroxisomal disorders is complex and briefly summarized. Anesthesiologists should consider characteristics of their particular patient’s form of peroxisomal disorder, as this may greatly influence procedural planning.

Zusammenfassung

Wir beschreiben den Fall eines 8‑jährigen Mädchens mit dem Verdacht auf eine peroxisomale Stoffwechselerkrankung, das zu operative Adenotomie, Parazentese und objektiver Audiometrie („brainstem-evoked response audiometry“, BERA) in Allgemeinanästhesie vorgestellt wurde. Peroxisomale Störungen sind eine heterogene Gruppe von seltenen genetischen Stoffwechselerkrankungen. Die Durchführung einer Anästhesie bei diesen Patienten stellt eine spezielle Herausforderung dar, da die Erkrankung mit Nebennierenrindeninsuffizienz, Entwicklungsverzögerung, Muskelschwäche, erhöhtem Aspirationsrisiko, schwierigem Atemweg, Krampfleiden sowie veränderter Pharmakokinetik und Pharmakodynamik einhergehen kann. Aufgrund der Seltenheit und der Heterogenität der Erkrankung sind Empfehlungen für die Durchführung einer Narkose bei diesen Patienten in der Literatur kaum zu finden. Wir beschreiben das perioperative Management und fassen die wichtigsten, anästhesierelevanten Aspekte dieser seltenen Erkrankungen zusammen.