Anesthetic management of a pediatric patient with Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH) and acute appendicitis: case report and review of the literature

Abstract

BackgroundMitochondria are the energy producing organelles practically in every human cell except erythrocytes. Indeed mitochondria are widespread in high energy requiring organs like brain, heart and muscles. Currently there are no clinical trials supporting with clear evidence which is the most suitable surgical or anesthetic management of a patient with known mitochondrial disease presenting with surgical disorders. This condition poses possible hazardous problems to the medical attention of those patients.Case presentationA case of an 8 year old child with known Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH deficiency) requiring surgery for acute appendicitis is presented. Our approach for anesthesia revealed a combination of fentanyl, low dose propofol and nitrous oxide.ConclusionThe choice of the safest pharmacological anesthetic agents for patients with ETFDH deficiency is challenging given that most of the general anesthetic medications have multiple effects on mitochondria, fatty acids metabolism and striated muscles. Anesthetists are expected to individualize anesthetic care for the patient based on current publications for similar cases, medical history and knowledge of pharmacology and physiology.

Anesthetic management of patients with carnitine deficiency or a defect of the fatty acid β-oxidation pathway

“…[ 25 , 29 ] Thus, we surmised that only 6 (18.75%) of the 32 surgeries used propofol as an induction or maintenance agent of general anesthesia (Table 1 ). [ 7 , 12 , 13 , 20 , 28 , 30 ] Furthermore, the probability of the propofol infusion syndrome increased upon the intravenous administration of propofol (>4 mg/kg/h) for more than 48 hours. [44] The suggested underlying mechanism of propofol infusion syndrome includes the inhibition of CPT-I, fatty acid β-oxidation, and electron transport chain, similar to an acquired form of carnitine deficiency.…”

“…[ 45 , 46 ] However, total intravenous anesthesia using propofol was performed in 3 cases (9.37%; Table 1 ). [ 12 , 20 , 30 ] One case underwent a bolus administration of 2 mg/kg propofol, followed by 8 mg/kg/h propofol for 3 hours. [12] The remaining 2 cases involved continuous infusion (0.08 mg/kg/min and 0.016 mg/kg/min), which were supposedly small doses.…”

“… [12] The remaining 2 cases involved continuous infusion (0.08 mg/kg/min and 0.016 mg/kg/min), which were supposedly small doses. [ 20 , 30 ] In addition, total intravenous anesthesia or sedation, which used ketamine-fentanyl, remifentanil-dexmedetomidine-midazolam, or midazolam-alfentanil other than propofol, was performed in 4 patients with compromised fatty acid β-oxidation (Table 1 ). [ 24 , 31 , 33 , 34 ] Considering CPT deficiency in some patients susceptible to malignant hyperthermia, the use of depolarizing muscle relaxant and inhalational anesthetic agent (sevoflurane, desflurane, and isoflurane) should be avoided in such patients.…”

Anaesthetic Management of a Patient with Multiple Acetyl CoA Dehydrogenase Deficiency: A Case Report

“…Currently, there are no guidelines regarding the anaesthetic management of these patients. 4 Case reports have stressed the importance of ensuring adequate hydration and glucose supplementation. 3 - 7 …”

“…Adequate hydration and prevention of hypoglycemia are important during the perioperative period. 4 We report the anaesthetic management of a MADD GA type II patient who underwent modified radical mastectomy (MRM).…”