A Case of Joubert Syndrome / 대한소아신경학회지

ABSTRACT

Joubert syndrome is a rare autosomal recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, ataxia, abnormal 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.