JOUBERT SYNDROME-A RARE AUTOSOMAL RECESSIVE DISORDER

Abstract

Joubert syndrome is an extremely rare autosomal recessive disorder.It is diagnosed primarily on the basis of imaging and clinical findings.Generally diagnosed in infancy,the cases present with a constellation of signs,mainly cerebellar.Imaging by MRI(Magnetic Resonance Imaging) reveals the pathognomonic ‘molar tooth’ sign and ‘bat wing’ sign.At our institution,a 7 month old infant presented with abnormal breathing and eye movements.He was examined and found to have hypotonia and delayed development,in addition to nystagmus and hyperpnoea.On MRI scanning he revealed the typical imaging findings,prompting us to report this rare case.

KEYWORDS:

Joubert syndrome, molar tooth, bat wing,MRI