Joubert's syndrome: New cases and review of clinicopathologic correlation

The authors report on seven patients, sir males and one female, with Jouber t's syndrome who underwent developmental evaluation, neurologic and ophthal mologic examinations, and magnetic resonance imaging of the brain. All pati ents had severe developmental delay, hypotonia, impairment of smooth visual pursuit, and saccadic eye movements, Sir had jerky eye movements and ptosi s was observed in two patients and retinal dystrophy in one, The posterior lobe of the vermis was absent in all patients and the small rudimentary ant erior lobe lacked fusion in the midline, with cleft formation in five patie nts, Malformation of the pontomesencephalic junction, with prominent superi or cerebellar peduncles and deep interpeduncular fossa, was observed in all patients. Abnormal cerebellar-brainstem and cerebellocortical connections because of the lack of the posterior vermis and dysplasia of the deep cereb ellar nuclei might be responsible for the abnormal eye movements and retard ed development in Joubert's syndrome. Correlation between radiologic findin gs and clinical symptoms and the possible role of abnormal patterning of th e midbrain-hindbrain by homeotic genes during embryonic development are rev iewed, (C) 1999 by Elsevier Science Inc. All rights reserved.