A Case of Joubert Syndrome.

Choi,  Hee Won; Chun,  Ko Un; Kim,  Hwang Min; Ho,  Byung

Case Report

Journal of the Korean Child Neurology Society 2004;12(1):105-110.
Published online May 30, 2004.

A Case of Joubert Syndrome.

Hee Won Choi, Ko Un Chun, Hwang Min Kim, Byung Ho

Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea. cha12bho@wonju.yonsei.ac.kr

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.

Key Words: Joubert syndrome, Molar tooth sign