Brain stem and cerebellar findings in Joubert syndrome

J Comput Assist Tomogr. 2006 Jan-Feb;30(1):116-21. doi: 10.1097/01.rct.0000191681.05473.13.


Joubert syndrome is often missed clinically and radiologically if not enough attention is paid to its subtle and variable clinical presentation and the imaging findings in the posterior fossa. The purpose of this paper is to illustrate the brain stem and cerebellar imaging findings in Joubert syndrome. Awareness of the clinical and neuroimaging findings in Joubert syndrome and maintenance of a high index of suspicion are essential to correctly diagnose this rare congenital malformation.

MeSH terms

  • Abnormalities, Multiple
  • Brain Stem / abnormalities*
  • Cerebellar Ataxia / diagnostic imaging
  • Cerebellar Ataxia / pathology
  • Cerebellar Diseases / diagnostic imaging
  • Cerebellar Diseases / pathology*
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Developmental Disabilities*
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Muscle Hypotonia
  • Ocular Motility Disorders
  • Prognosis
  • Syndrome
  • Tomography, X-Ray Computed