Joubert syndrome

Case contributed by A.Prof Frank Gaillard

Presentation

No history available.

Patient Data

Age: Young child
Gender: Male
MRI

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.

Diagram

Annotated images

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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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Case information

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

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