Joubert syndrome

Case contributed by Ryan Thibodeau
Diagnosis certain

Presentation

History of hypoplasia of the cerebellar vermis on neonatal ultrasound.

Patient Data

Age: 3 years
Gender: Female
mri

There is relative hypoplasia of the cerebellar vermis, especially the superior portion. There is a wide area where the medial surfaces of the cerebellar hemispheres are in direct apposition with each other. The fourth ventricle is abnormal in shape, and there is prominence of the brachium conjunctivum bilaterally, yielding a "molar tooth" appearance on the axial images.

Case Discussion

The above described imaging findings are consistent with Joubert syndrome. This appears as an incomplete case of Joubert syndrome as the cerebellar vermis is not completely hypoplastic/aplastic.

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