Joubert syndrome

Case contributed by Assoc Prof Frank Gaillard

Presentation

No history available.

Patient Data

Age: Young child
Gender: Male

MRI brain

MRI

MRI of the brain demonstrates absence of the cerebellar vermis, with apposition (but no fusion) of the cerebellar hemispheres. The fourth ventricle has a bat-wing configuration, and elongated superior cerebellar peduncles giving the midbrain a characteristic molar-tooth shape.

Annotated images

Diagram
  • Figure 1: absent vermis, with unfused hemispheres abutting each other
  • Figure 2: bat-wing 4th ventricle
  • Figure 3: molar tooth sign, with elongated superior cerebellar peduncles

Case Discussion

This case demonstrates typical features of Joubert syndrome, an autosomal recessive disorder where there is agenesis of the cerebellar vermis to varying degrees.

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