Pediatric Joubert Syndrome

  • Etiology: Genetically diverse group of ciliopathies
  • Imaging:
    — Molar tooth morphology of midbrain (thickened and horizontal superior cerebellar peduncles, midbrain thinning with absent superior cerebellar peduncles decussation)
    — Vermian hypogenesis
    — Cystic dilation of fourth ventricle in 10%
  • DDX:
  • Complications:
  • Treatment:
  • Clinical:

Radiology Cases of Joubert Syndrome

MRI of Joubert syndrome
Axial T1 MRI without contrast of the brain (left) shows thickened and horizontal superior cerebellar peduncles giving the midbrain the appearance of a molar tooth and the fourth ventricle is enlarged. A lower image (right) shows cerebellar vermian hypoplasia.