A report of Joubert syndrome in an infant, with literature review

Abstract

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. The exact diagnosis is often not made for several years after birth. This report shows that with the availability of magnetic resonance imaging (MRI), especially in developing countries like India, it is quite feasible to make an early diagnosis which may positively affect the subsequent management and outcome. We present a case of JS in a 7-month-old girl who presented to the pediatric outpatient clinic with developmental delay and abnormal eye movements. MRI showed molar tooth configuration of superior cerebellar peduncles, the fourth ventricle shaped like a bat wing and hypoplasia of the vermis which resulted in median approach of the two cerebellar hemispheres.