Korean J Anesthesiol.  2009 Jul;57(1):96-99. 10.4097/kjae.2009.57.1.96.

Anesthetic management for a pediatric patient with joubert syndrome: A case report

• Lee YS
• Kim WY
• Kim KG
• Chang MS
• Kim JH
• Park YC

• KMID: 1782622
• DOI: http://doi.org/10.4097/kjae.2009.57.1.96

Abstract

Joubert syndrome is a rare autosomal recessive condition in which there is complete or partial agenesis of the cerebellar vermis. The clinical features are hypotonia, ataxia, mental retardation, abnormal ocular movements, typical facial features and episodic tachypnea with alternating apnea. The abnormal respiratory pattern and hypotonia may be exacerbated by anesthetics, and especially, the apneic episodes may be prolonged by administering opioids. Joubert syndrome has been associated with various airway abnormalities such as a high and arched palate, a large or protruding tongue, laryngomalacia, a variable epiglottis and micrognathia. These abnormalities may cause difficulty with tracheal intubation. In this present case, direct laryngoscope-assisted, fiberscopic guided intubation was performed. This case is the first report of anesthetic management in a patient with Joubert syndrome and who underwent palatoplasty in Korea.

Keyword

Anesthetic management; Fiberscopic intubation; Joubert syndrome

MeSH Terms

Analgesics, Opioid
Anesthetics
Apnea
Ataxia
Cerebellar Diseases
Epiglottis
Eye Abnormalities
Humans
Intellectual Disability
Intubation
Kidney Diseases, Cystic
Korea
Laryngomalacia
Muscle Hypotonia
Palate
Retina
Tachypnea
Tongue
Analgesics, Opioid
Anesthetics
Cerebellar Diseases
Eye Abnormalities
Kidney Diseases, Cystic
Retina