title: Joubert syndrome: imaging features and illustration of a case.
abstract: BACKGROUND
  Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus.
  
  
  METHODS
  We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography.
  
  
  CONCLUSIONS
  Joubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression.
authors.affiliation: Department of Radiology, Nizams Institute of Medical Sciences, Hyderabad, India.
authors.forename: Richa
authors.initials: R
authors.lastname: Arora
keywords: Congenital Abnormalities; Multidetector Computed Tomography; Nervous System Malformations