Joubert Syndrome: A Case Report

Joubert Syndrome is a rare autosomal recessive disorder characterized with hypotonia, ataxia, mental and motor retardation, episodic tachypnea-apnea and oculomotor anomalies. Prognosis is poor in patients with hypotonia and severe growth retardation. Its characteristic imaging finding is hypoplasia of cerebellar vermis and ‘molar tooth sign’ in brainstem. Dandy-Walker formation and Down Syndrome take part in differential diagnosis. Clinical findings of Joubert Syndrome are quite heterogenous. Thus determination of radiological findings is essential. In this paper, a case who applied to our clinic with complaint of headache and who had mild mental-motor retardation and diagnosed as Joubert Syndrome radiologically was presented.