Perioperative management of a female diagnosed with heterozygous X-linked adrenoleukodystrophy scheduled for shoulder arthroscopy

Rev Esp Anestesiol Reanim (Engl Ed). 2019 Feb;66(2):113-116. doi: 10.1016/j.redar.2018.08.006. Epub 2018 Nov 15.
[Article in English, Spanish]

Abstract

X-linked adrenoleukodystrophy (X-ALD) belongs to a family of rare diseases due to inborn errors of metabolism. It has a wide spectrum of clinical manifestations that anaesthesiologists should recognise during the perioperative period (respiratory centre dysfunction, hypotonia, adrenal or hepatic failure, gastroesophageal reflux disease, osteopenia, seizures).The case is presented of a 42-year-old X-linked adrenoleukodystrophy female carrier, who underwent combined general and an ultrasound-guided interscalene brachial plexus block anaesthesia for shoulder arthroscopy. Induction was performed with thiopentone and fentanyl, and sevoflurane was used as inhaled maintenance agent. No events were recorded during the procedure. Her post-operative recovery was satisfactory and she was later discharged home.

Keywords: Adrenoleucodistrofia; Adrenoleukodystrophy; Anaesthesia; Anestesia; Carriers; Long chain fatty acids; Portador; Ácidos grasos de cadena larga.

Publication types

  • Case Reports

MeSH terms

  • Adrenoleukodystrophy / genetics*
  • Adult
  • Anesthesia, General
  • Anesthetics
  • Arthroscopy*
  • Brachial Plexus Block / methods*
  • Female
  • Fentanyl
  • Heterozygote*
  • Humans
  • Sevoflurane
  • Shoulder / surgery*
  • Thiopental

Substances

  • Anesthetics
  • Sevoflurane
  • Thiopental
  • Fentanyl