Joubert syndrome

Case contributed by A.Prof Frank Gaillard

Presentation

None provided.

Patient Data

Age: Child
MRI

Selected images from an 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 the elongated superior cerebellar peduncles give the midbrain a characteristic molar-tooth shape.

Case Discussion

 Findings are characteristic of Joubert syndrome.

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Case information

rID: 8237
Published: 19th Jan 2010
Last edited: 16th Jul 2018
Inclusion in quiz mode: Included

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