Joubert Syndrome Associated with Total Corpus Callosum Agenesis

Abstract

Joubert syndrome was first described in 1969. It is a rare inherited disorder demonstrating one of the developmental defects of the cerebellar vermis. The main clinical signs of the syndome include developmental delay, hypotonia, ataxia, abnormal ocular movements and abnormal respiratory pattern of alternating episodic tachypnea-hyperpnea and apnea. Radiological findings comprise a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricule. Associated supratentorial abnormalities such as callosal dysgenesis have been infrequently reported in patients with Joubert syndrome This report describes the clinical and neuroradiological findings of a rare patient presenting Joubert syndrome associated with total corpus callosum agenesis.