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Year : 2014  |  Volume : 58  |  Issue : 1  |  Page : 63-65  

Anaesthesia for a child with adrenoleukodystrophy: A case report and review of the literature

Department of Anaesthesia, National University Hospital, 5 Lower Kent Ridge Road 119 074, Singapore

Date of Web Publication13-Feb-2014

Correspondence Address:
Sien Hui Tan
Department of Anaesthesia, National University Hospital, 5 Lower Kent Ridge Road 119 074
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5049.126802

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We present a 9-year-old boy with X-linked cerebral adrenoleukodystrophy (X-linked ALD) and previous umbilical cord transplant who required general anaesthesia. An anaesthetic plan for each individual should be tailored to ensure the best possible anaesthetic care for these patients. The anaesthetic considerations include mental retardation, seizure disorder, hypotonia, liver function abnormalities, gastro-oesophageal reflux, impaired adrenocortical function and immunosuppression. Pre-operative sedation should be avoided because of hypotonia of the pharyngeal muscles. Anti-convulsants are continued, and potentially epileptogenic anaesthetic agents are avoided. The patient was intubated using a modified rapid sequence induction with a head up position of 30 degrees. Four other cases have been reported in literature. Nevertheless, there is still no established anaesthetic management for these patients, and total intravenous anaesthesia can be considered as a safe and alternative method of anaesthesia. To the best of our knowledge, this is the first reported use of total intravenous anaesthesia with propofol and remifentanil in a case of cerebral adrenoleukodystrophy, and with a favourable outcome.

Keywords: Adrenoleukodystrophy, anaesthesia, fatty acids, X-linked cerebral adrenoleukodystrophy

How to cite this article:
Tan SH, Ng VH. Anaesthesia for a child with adrenoleukodystrophy: A case report and review of the literature. Indian J Anaesth 2014;58:63-5

How to cite this URL:
Tan SH, Ng VH. Anaesthesia for a child with adrenoleukodystrophy: A case report and review of the literature. Indian J Anaesth [serial online] 2014 [cited 2021 Jun 24];58:63-5. Available from: https://www.ijaweb.org/text.asp?2014/58/1/63/126802

   Introduction Top

Adrenoleukodystrophy (X-linked ALD) is a disorder of peroxisomal fatty acid beta-oxidation, and this brings about the accumulation of very-long chain fatty acids (VLCFA) in tissues throughout the body. These VLCFA contain 24 or more carbons with hexacosanoic acid (C 26 ) predominating. X-linked ALD is most frequently found in males. Nearly one-third will present with the childhood cerebral form of the disease, between ages 4 and 10.

Anaesthetic management of children with X-linked ALD has been previously reported. [1],[2],[3],[4] In view of the rarity of these cases, anaesthetic management of these patients remains uncertain. To the best of our knowledge, this is probably the first reported case in the literature of an X-linked ALD child who received total intravenous anaesthesia (TIVA) and discuss the anaesthetic implications to ensure the best possible result for these patients.

   Case Report Top

Our patient was a 9-year-old Indian male with X-linked cerebral ALD who required general anaesthesia for a permanent catheter insertion via left internal jugular vein for plasmapheresis. The patient was diagnosed in June 2011 at 6 years of age when he presented with partial seizures. He underwent an unrelated donor umbilical cord blood transplant (minor B->O incompatibility) and maintained stable donor chimerism. Post-operative recovery was uneventful and he led a relatively normal seizure free life.

He presented on August 2012 with blood-stained urine and chest pain. Investigations determined that he was suffering from severe autoimmune haemolytic anaemia, liver dysfunction and steroid related side effects.

Physical examination revealed a 46 kg male with pallor, yellow sclera and cushingoid facies. He was confined to the wheelchair and demonstrated hypotonia. The child showed limited interaction with his environment. Pre-operative medications included levitiracetam, fludrocortisone and famotidine. His pre-operative investigations showed a haemoglobin concentration of 3 g/dL, which eventually improved to 6.9 g/dL after several cycles of plasmapheresis and blood transfusion, and a raised total bilirubin of 97 μmol/L.

Standard monitoring was attached, and intravenous hydrocortisone 100 mg was administered. The patient was tilted 30 degrees head-up, pre-oxygenated and cricoid pressure was applied. However, ventilation could not be achieved, and decision was made to release cricoid pressure. Anaesthesia was induced with a target propofol concentration of 4 μg/mL and remifentanil infusion rate of 4 ng/mL. Muscle relaxation was provided with rocuronium 0.7 mg/kg. The trachea was intubated orally with a size 6 cuffed tracheal tube. Maintenance of anaesthesia was achieved with a target propofol concentration of 2.5 μg/mL and remifentanil infusion rate of 3 ng/mL. Post-operative analgesia was obtained with 10 mL of lignocaine 1% infiltrated over the surgical site.

Following the procedure that lasted 105 minutes, residual neuromuscular blockade was reversed with neostigmine 2.5 mg and glycopyrrolate 0.4 mg. Neuromuscular function was assessed with electromyography. After the patient demonstrated airway protective reflexes, spontaneous eye opening and a regular respiratory pattern, the trachea was extubated. Recovery was uneventful, and he was subsequently discharged to the general ward.

   Discussion Top

ALD is the most common peroxisomal inborn error of metabolism. It has an estimated occurrence between 1:20,000 and 1:50,000. The myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes are generally the main tissues involved. [5]

The anaesthesiologist must consider several factors in his management including mental retardation, seizure disorder, hypotonia, liver dysfunction, gastro-oesophageal reflux and abnormal adrenocortical function. Proper drug history is crucial as our patient is on an immunosuppressive regime and chronic steroid replacement, which may affect his ability to compensate for the stress of surgery. Anaesthetic drug dosages may need correction due to hepatic enzyme adjustment secondary to his anti-convulsant therapy.

Mental retardation can be presented in the form of a difficult and uncooperative patient, especially in a child. Pre-operative sedation should be avoided because of the risk of worsening airway obstruction due to hypotonic pharyngeal muscles. Post-operatively, the patient may be observed for longer period in the recovery room because airway obstruction may be worsened by residual anaesthesia or traumatic oedema. Anti-convulsants are continued up to the day of surgery, and potentially epileptogenic anaesthetic agents such as ketamine or enflurane are avoided.

These patients have a higher risk of gastro-oesophageal reflux and pulmonary aspiration. Administration of a histamine-2 antagonist and rapid sequence induction with cricoid pressure are recommended. In our case, cricoid pressure prevented the patient from being ventilated. The patient was intubated using a rapid onset muscle relaxant without cricoid pressure but with a head up position of 30 degrees. There was no visualization of gastric contents on direct laryngoscopy later or clinical evidence of aspiration.

Another important consideration is patient movement and positioning. The present patient was on chronic steroid therapy and confined to a wheelchair, thus was susceptible to bone mineral density loss and iatrogenic fracture during transfer. Protection such as cushions should be used at bony prominences to prevent pressure sores.

Induction agents previously used were thiopentone, [2],[4] propofol [1] and sevoflurane [3] while anaesthesia was maintained with isoflurane, [1],[2] and sevoflurane. [3],[4] Inhalation agents are commonly used for induction and maintenance of anaesthesia especially sevoflurane. However, sevoflurane has the disadvantage of producing metabolites that could be potentially hepatotoxic. This is certainly not advisable in our patient with hepatic dysfunction.

The use of propofol was considered carefully. Commercial propofol is formulated in 10% soybean oil emulsion and does not contain very long chain fatty acid (VLCFA). Unlike thiopetone, propofol does not worsen the patient's deranged liver function tests and still provide rapid recovery. Propofol may cause epileptiform movements, but the latest studies have indicated no real evidence of epilepsy on electroencephalography. [6]

We did not contemplate use of etomidate as an induction agent although our patient was on chronic steroid replacement and peri-operative steroids were administered. This is because we preferred to minimize the number of drugs used, and a different agent would have been necessary for the maintenance of anaesthesia.

Other drugs used for this patient were carefully chosen. Remifentanil was selected for its rapid onset and short half-life, which is unaffected by the duration of infusion. Although no studies have evaluated the effects of opioids in these patients, they may have an exaggerated sensitivity to the respiratory depressant effects of these drugs and should be avoided.

We used the non-depolarizing agent rocuronium, at a dose of 0.7 mg/kg to 1 mg/kg, due to its rapid onset of action inspite of its longer duration of action. Succinylcholine is usually used for rapid sequence induction. However, the risk of hyperkalaemia in these patients is unknown with one report of hyperkalaemia after succinylcholine was used in a patient with multiple sclerosis. [7] The other option of intubation with a remifentanil bolus was dismissed, as this will not improve the grade of intubation. [8] Moreover, studies have reported an increased incidence of difficult intubation when neuromuscular blocking agents were avoided. [9],[10]

Although inhalational anaesthesia has been the basis of paediatric anaesthesia for many years, we believe that TIVA is expanding its role in paediatrics with new advances in technology. One of the benefits of TIVA is the enhanced quality of emergence from anaesthesia. In our case, we also wanted to ensure a smooth, peaceful recovery for the child and subsequently a less traumatic experience for the parents. It is a known fact that post-operative agitation is common in preschool children after inhalational anaesthesia and can cause a lot of distress to both the patient and the parents. [11]

TIVA also has the advantage of minimal post-operative nausea and vomiting. Inhalational agents which are the main culprits are avoided and furthermore, propofol itself has anti-emetic properties. [11] Vomiting frequently ensues in children older than 2 or 3 years [12] and can be a source of great agony as well as misery for them. In our patient who has a higher risk of gastro-oesophageal reflux and pulmonary aspiration, it is crucial that vomiting be prevented as much as possible.

Lastly, we believe that the intravenous agents used in TIVA would ensure the safest outcome for the patient based on the reasons discussed above. It is essential to tailor our anaesthesia management to our patient, and in our case, we deem that TIVA with propofol and remifentanil to be advantageous over the other anaesthetic methods.

   Conclusion Top

In summary, the optimal anaesthetic management for these patients has yet to be established. We have described the successful management of a child with X-linked adrenoleukodystrophy with use of total intravenous anaesthesia using propofol and remifentanil with a favourable outcome.

   References Top

1.Tobias JD. Anaesthetic considerations for the child with leukodystrophy. Can J Anaesth 1992;39:394-7.  Back to cited text no. 1
2.Schwartz RE, Stayer SA, Pasquariello CA, Lowe DA, Foster CJ. Anaesthesia for the patient with neonatal adrenoleukodystrophy. Can J Anaesth 1994;41:56-8.  Back to cited text no. 2
3.Dobson G, Lyons J. Anaesthesia for a life-limited child with adrenoleucodystrophy. EurJ Anaesth 2004;21:78-9.  Back to cited text no. 3
4.Hamdiye CT. Anesthesia management of a child with adrenoluecodystrophy. Paed Anaes 2006;16:221-2.  Back to cited text no. 4
5.Moser HW, Smith KD, Watkins PA, Powers J, Moser A. X-Linked Adrenoleukodystrophy. In: Scriver CW, Beaudet AL, Sly WS, Valle D, editors. Metabolic and molecular basis of inherited disease. 8 th ed. New York: McGraw Hill; 2001. p. 3257-02.  Back to cited text no. 5
6.Meyer S, Shamdeen MG, Kegel B, Mencke T, Gottschling S, Gortner L, et al. Effect of propofol on seizure-like phenomena and electroencephalographic activity in children with epilepsy vs children with learning difficulties. Anaesthesia 2006;61:1040-7.  Back to cited text no. 6
7.Cooperman LH. Succinylcholine-induced hyperkalemia in neuromuscular disease. JAMA 1970;213:1867-71.  Back to cited text no. 7
8.Schlaich N, Mertzlufft F, Soltesz S, Fuchs-Buder T. Remifentanil and propofol without muscle relaxants or with different doses of rocuronium for tracheal intubation in outpatient anaesthesia. Acta Anaesthesiol Scand 2000;44:720-6.  Back to cited text no. 8
9.Combes X, Andriamifidy L, Dufresne E, Suen P, Sauvat S, Scherrer E, et al. Comparison of two induction regimes using or not using muscle relaxant: Impact on the postoperative upper airway discomfort. Br J Anaesth 2007;99:276-81.  Back to cited text no. 9
10.Lundstrom LH, Moller AM, Rosenstock C, Astrup G, Gatke MR, Wetterslev J. Avoidance of neuromuscular blocking agents may increase the risk of difficult tracheal intubation: A cohort study of 103812 consecutive adult patients recorded in the Danish Anaesthesia Database. Br J Anaesth 2009;103:283-90.  Back to cited text no. 10
11.Lerman J, Johr M. Inhalational anaesthesia vs. total anaesthesia (TIVA) for paediatric anaesthesia. Pediatr Anaesth 2009;19:521-34.  Back to cited text no. 11
12.Sossai R, Jöhr M, Kistler W, Gerber H, Schärli AF. Postoperative vomiting in children. A persisting unsolved problem. Eur J Pediatr Surg 1993;3:206-8.  Back to cited text no. 12

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