뇌실조영술로 확인된 Joubert 증후군 1례

A Case of joubert Syndrome Confirmed by Ventriculography

Joubert syndrome is characterized by episodic hyperpnea, abnormal eye movements, ataxia and mental retardation, It is known to bo inherited as an autosomal recessive trait and is more common in the offsprings of consanguineous relationships with definite preference for the male sex. We experienced a case of Joubert syndrome in 2 month old male baby who showed left side ptosis, episodic hyperpnea, abnormal eye movement and agenesis of cerebellar vermis on brain computed tomography. A review of literatures was also presented briefly.

(0)

(0)

(0)

(0)