Joubert syndrome

Case contributed by Dr Maxime St-Amant


Follow-up MRI. New onset headaches. The older study wasn't available for comparison.

Patient Data

Age: 7 years
Gender: Male

MRI shows the characteristic molar tooth apperance of the midbrain, secondary to an absence of fiber decussation in the superior cerebellar penducles and pyramidal tracts. There is also a batwing appearance of the fourth ventricle. Also, there is a dysplastic cerebellar vermis.

Lateral ventricles are not enlarged. Corpus callosum is intact.

Case Discussion

Typical appearances of Joubert Syndrome

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Case information

rID: 18886
Published: 26th Jul 2012
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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