JOUBERT SYNDROME IN A CHILD WITH CLASSICAL RADIOLOGICAL SIGNS

Abstract

Joubert syndrome (JS) is an uncommon genetically heterogeneous autosomal recessive developmental disease which manifests as hypotonia, delay in gross motor developmental milestones, hypoplastic vermis of cerebellum and malformation of brainstem, episodic tachypnea or apnea, atypical eye movements, truncal ataxia and cognitive or intellectual impairment. MRI being the gold standard revealed the classic Molar Tooth Sign and Bat wing appearance of fourth ventricle. So high suspicion with early detection and genetic counselling play a vital role in this syndrome.