Joubert syndrome- A case presentation [Joubert sendromu- Olgu sunumu]

Joubert syndrome is an autosomal recessive disorder characterized by partial or complete agenesis of the cerebellar vermis. Clinical features include attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor retardation and ataxia. A 12 year- old male patient was diagnosed as Joubert syndrome by clinical and radiological findings. After 10 years follow up, his ataxic symptoms improved to be enough to supply self care. Our case was interesting because of his good prognosis which is rare for this condition.