Anesth Pain Med.  2021 Apr;16(2):158-162. 10.17085/apm.20091.

Anesthetic considerations of Joubert syndrome in patients with mitochondrial disease - A case report -

• Kim JY
• Jeong K
• Han KS
• Park JE
• Kim MG
• Jun MR

• KMID: 2515541
• DOI: http://doi.org/10.17085/apm.20091

Abstract

Background
Joubert syndrome and mitochondrial disease are rare congenital diseases in which a wide range of symptoms affects multiple organs. Patients with these diseases present characteristic symptoms related to the musculoskeletal, respiratory, and neurological systems, which make it difficult for anesthesiologists to manage the patient’s airway and choose appropriate anesthetic drugs. Case A 13-year-old male patient with Joubert syndrome and mitochondrial disease underwent elective surgery to insert a continuous ambulatory peritoneal dialysis catheter. Anesthesia was induced and maintained with propofol, remifentanil, and rocuronium. An I-gel was inserted to secure the airway; however, the fitting did not work properly, so the patient was intubated. The operation was completed without any major problems, and the intubated patient was transferred to the intensive care unit.
Conclusions
Anesthesiologists should determine the method of anesthesia and prepare for unintended complications based on a full understanding of these congenital diseases.

Keyword

Airway management; Anesthesia, intravenous; Cerebellar diseases; Mitochondrial disease

Reference

1. Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010; 5:20.

2. Muravchick S. Clinical implications of mitochondrial disease. Adv Drug Deliv Rev. 2008; 60:1553–60.

3. Kumandas S, Akcakus M, Coskun A, Gumus H. Joubert syndrome: review and report of seven new cases. Eur J Neurol. 2004; 11:505–10.

4. Krishna SG, Bryant JF, Tobias JD. Management of the difficult airway in the pediatric patient. J Pediatr Intensive Care. 2018; 7:115–25.

5. Mirghassemi A, Soltani AE, Abtahi M. Evaluation of laryngoscopic views and related influencing factors in a pediatric population. Paediatr Anaesth. 2011; 21:663–7.

6. Jagannathan N, Sohn L, Fiadjoe JE. Paediatric difficult airway management: what every anaesthetist should know! Br J Anaesth. 2016; 117 Suppl 1:i3–5.

7. Van Zundert AA, Kumar CM, Van Zundert TC. Malpositioning of supraglottic airway devices: preventive and corrective strategies. Br J Anaesth. 2016; 116:579–82.

8. Habre W, Sims C, D'Souza M. Anaesthetic management of children with Joubert syndrome. Paediatr Anaesth. 1997; 7:251–3.

9. Niezgoda J, Morgan PG. Anesthetic considerations in patients with mitochondrial defects. Paediatr Anaesth. 2013; 23:785–93.

10. Driessen J, Willems S, Dercksen S, Giele J, van der Staak F, Smeitink J. Anesthesia-related morbidity and mortality after surgery for muscle biopsy in children with mitochondrial defects. Paediatr Anaesth. 2007; 17:16–21.

11. Footitt EJ, Sinha MD, Raiman JA, Dhawan A, Moganasundram S, Champion MP. Mitochondrial disorders and general anaesthesia: a case series and review. Br J Anaesth. 2008; 100:436–41.

12. Malignant Hyperthermia Association of the United States. Does mitochondrial myopathy (MM) increase an individual's susceptibility to malignant hyperthermia (MH)? Malignant Hyperthermia Association of the United States [Internet]. 2012 [cited 2021 Jan 29]. Available from https://www.mhaus.org/healthcare-professionals/mhaus-recommendations/does-mitochondrial-myopathy-mm-increase-an-individuals-susceptibility-to-malignant-hyperthermia-mh/.

13. Farag E, Deboer G, Cohen BH, Niezgoda J. Metabolic acidosis due to propofol infusion. Anesthesiology. 2005; 102:697–8. author reply 698-9.

14. Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, et al. Mitochondrial dysfunction in a patient with Joubert syndrome. Neuropediatrics. 2005; 36:214–7.

15. Kloka J, Blum LV, Piekarski F, Zacharowski K, Raimann FJ. Total intravenous anesthesia in Joubert syndrome patient for otorhinolaryngology surgery: a case report and mini review of the literature. Am J Case Rep. 2020; 21:e923018.