JOUBERT SYNDROME –A RARE CASE OF CEREBELLAR ATAXIA

Sajeeth Kumar K. G. and Santhosh Narayanan*

ABSTRACT

Joubert syndrome is an uncommon autosomal recessive neurodevelopmental disorder involving cerebellar vermis and brain stem. We report a case of 14 year old male boy who presented with ataxia, abnormal movements and intention tremor. Magnetic resonance imaging (MRI) revealed characteristic Molar tooth sign and bat wing appearence of fourth ventricle.

Keywords: Magnetic resonance imaging.