Joubert Syndrome Presented with Ocular Motor Apraxia

ABSTRACT

Agenesis of the cerebellar vermis, episodic hyperpnea alternating with apnea, abnormal eye movement, ataxia, and psychomotor retardation are shown in Joubert syndrome. This rare syndrome is inherited as an autosomal recessive trait with variable expression. We report the first cases of Joubert syndrome in Korea, to our knowledge, which showed ocular motor apraxia and agenesis of the cerebellar vermis by Magnetic Resornance Image. From these two cases, we describe the correlation between the cerebellar vermian dysfunction and the ocular motor apraxia.