Joubert syndrome

Case contributed by Dr Maxime St-Amant

Presentation

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

Patient Data

Age: 7 years
Gender: Male
Modality: MRI

MRI shows the characteristic molar tooth apperance of the midbrain, secondary to an absence of fibre 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.

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Case Information

rID: 18886
Case created: 26th Jul 2012
Last edited: 20th Mar 2016
Inclusion in quiz mode: Included

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