thiopental and Adrenoleukodystrophy

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.

Topics: Adrenoleukodystrophy; Adult; Anesthesia, General; Anesthetics; Arthroscopy; Brachial Plexus Block; Female; Fentanyl; Heterozygote; Humans; Sevoflurane; Shoulder; Thiopental

Topics: Adrenoleukodystrophy; Anesthesia, General; Anesthetics, Inhalation; Anesthetics, Intravenous; Child; Fiber Optic Technology; Gastrostomy; Humans; Intubation, Intratracheal; Isoquinolines; Male; Methyl Ethers; Mivacurium; Mouth; Neuromuscular Nondepolarizing Agents; Nitrous Oxide; Sevoflurane; Thiopental

Adrenoleukodystrophy (ALD) is a rare genetic disorder. Findings include various central nervous system problems in addition to adrenal insufficiency. We present a case of an adult man with X-linked ALD undergoing surgery.. A 40-yr-old man with X-linked ALD presented with an intertrochanteric femoral fracture. Past medical history included recurrent lung atelectasis, urinary incontinence, mental retardation, seizure disorder, and adrenal insufficiency. No sedative pre-medications were ordered, but perioperative steroid coverage with 100 mg hydrocortisone was initiated. In the operating room, the patient would not allow placement of all monitors. Therefore, 1 mg midazolam then 275 mg thiopentone followed immediately by 40 mg rocuronium were used to induce anesthesia with the application of cricoid pressure and the remaining monitors. Fentanyl 50 micrograms i.v. was given soon after induction, and anaesthesia was maintained with nitrous oxide and isoflurane. No further muscle relaxant or opioid was administered and anaesthesia was uneventful. The trachea was extubated with the patient awake and he was taken to the recovery area in stable condition.. Patients with X-linked ALD are rarely seen in a clinical setting because the condition is so uncommon. Adrenal insufficiency, mental retardation, and osteoporosis are major considerations for these patients. In addition, these patients are at risk for reflux, seizures, and major post-operative complications.

Topics: Adrenoleukodystrophy; Adult; Androstanols; Anesthesia Recovery Period; Anesthesia, General; Anesthetics, Inhalation; Anesthetics, Intravenous; Anti-Inflammatory Agents; Fentanyl; Genetic Linkage; Hip Fractures; Humans; Hydrocortisone; Hypnotics and Sedatives; Intraoperative Care; Intubation, Intratracheal; Isoflurane; Male; Midazolam; Neuromuscular Nondepolarizing Agents; Nitrous Oxide; Rocuronium; Thiopental; X Chromosome

The authors present and discuss the care of a nine-month-old with neonatal adrenoleukodystrophy who required general anaesthesia for gastrointestinal endoscopy. Neonatal adrenoleukodystrophy is an inherited disorder of peroxisomal enzymes. Anaesthetic care may be affected by the presence of hypotonia, liver function abnormalities, gastroesophageal reflux, and impaired adrenocortical function. Preoperative sedation is contraindicated because of the risk of precipitating airway obstruction due to pre-existing hypotonia. Anaesthetic induction and tracheal intubation should be performed to minimize the risk for aspiration of gastric contents. The choice of muscle relaxant should take into account the pre-existing hypotonia as well as the possibility of hyperkalaemia in response to succinylcholine. Anaesthetic agents known to decrease the seizure threshold should be avoided in patients with a seizure disorder. In addition, anaesthetic agents that rely on the liver for metabolism should be used with caution in patients with cirrhosis. When time permits, these patients should be screened for adrenocortical insufficiency before surgery, and perioperative steroid coverage is advisable when preoperative testing of adrenocortical function is not feasible. While these patients eventually die after progressive deterioration, full recovery from the effects of anaesthesia and surgery can be achieved with attention to neurological, metabolic, and physical problems.

Topics: Adrenoleukodystrophy; Anesthesia, Inhalation; Anesthesia, Intravenous; Gastritis; Gastrointestinal Hemorrhage; Humans; Infant; Isoflurane; Male; Pancuronium; Thiopental