Joubert syndrome

Case contributed by Maxime St-Amant
Diagnosis almost certain

Presentation

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

Patient Data

Age: 7 years
Gender: Male
mri

MRI shows the characteristic molar tooth appearance of the midbrain, secondary to an absence of fiber decussation in the superior cerebellar peduncles 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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