Joubert syndrome

Case contributed by A.Prof Frank Gaillard


No history available.

Patient Data

Age: Young child
Gender: Male

MRI brain

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


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.

PlayAdd to Share

Case information

rID: 8238
Case created: 19th Jan 2010
Last edited: 25th Nov 2015
Inclusion in quiz mode: Included

Updating… Please wait.

Alert accept

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

Alert accept Thank you for updating your details.