Joubert syndrome

Case contributed by Dr Azza Elgendy


Ataxia and developmental delay.

Patient Data

Age: 11
Gender: Male

4th ventricle has "bat wing" configuration (umbrella shaped) Thickened superior cerebellar peduncles around the elongated 4th ventricle forms the classic "molar tooth". The vermis is small and dysplastic. Cleft cerebellar vermis is suggested. Large cistern magna is also seen.

Case Discussion

Imaging features:

  • "molar tooth" appearance of midbrain on axial images
  • midline vermian clefting
  • thick, horizontal (perpendicular to brainstem), superior cerebellar peduncle
  • HASTE allows clear identification of "molar tooth" sign in fetuse

Top differential diagnoses:

  • Dandy-walker continuum
  • vermian and pontocerebellar hypoplasia
  • rhombencephalosynapsis
  • cerebellar vermian atrophy
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Case information

rID: 27291
Case created: 27th Jan 2014
Last edited: 13th Mar 2016
Inclusion in quiz mode: Included

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