A Case of Joubert Syndrome.

Kim,  Hyun Sook; Kim,  Heung Dong; Chung,  Churl Young; Cho,  Woo Ho

Original Article

Journal of the Korean Child Neurology Society 1997;5(1):153-158.
Published online October 30, 1997.

A Case of Joubert Syndrome.

Hyun Sook Kim, Heung Dong Kim, Churl Young Chung, Woo Ho Cho

Abstract

Joubert syndrome is a rare hereditary brain malformation and transmitted as an autosomal recessive tarit. This disorder is clinically characterized by episodic tachypnea and apnea, abnormal ocular movements, developmental delay and ataxia. Anatomic anomalies include cerebellar vermal agenesis with dilatation of the fourth ventricle. Symptomatic onset is in the neonatal period and prognosis is severe. We have experienced a case of Joubert syndrome in a 3months old male patient, who manifested by developmental delay, periodic tachypnea and apnea, abnormal eye movement, generalized hypotonia and hypoplasia of cerebellar vermis with the 4th ventricular dilatation on brain MRI. We presented this case with a brief review of literatures.