Joubert 증후군 환아의 마취관리

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.