IMPORTANT: We currently have a number of bugs related to image cropping and are actively trying to resolve them. In the meantime, we have disabled cropping. Apologies for any inconvenience. Stay informed: radiopaedia.org/chat

Joubert syndrome

Case contributed by Frank Gaillard
Diagnosis certain

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.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.