Joubert 증후군 1례

A Case of Joubert Syndrome

Joubert syndrome is a rare autosomal recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, ataxia, abnomial eye movements, and a respiratory pattern of alternating tachypnea and apnea. Brain MRI shows the molar tooth sign resulting from dysplasia of the isthmic segment of the brain stem, superior cerebellar peduncles, and vermis. We experienced a case of Joubert syndrome, who was a 18 month-old female with episodic hyperpnea, developmental delay, abnormal eye movements and complete agenesis of the cerebellar vermis. We present this case with a brief review of literature.