Joubert syndrome

Case contributed by Dr Sean Finnegan

Presentation

Cognitive decline with cerebellar symptoms.

Patient Data

Age: 65 years
Gender: Male

MRI

MRI

Vermian hypoplasia with elongation of the superior cerebellar peduncles demonstrating a molar tooth appearance.  The fourth ventricle demonstrates a bat's wing appearance. 

Case Discussion

Vermian hypoplasia with elongation of the superior cerebellar peduncles demonstrating a molar tooth appearance and bat's wing appearance of the fourth ventricle in keeping with a diagnosis of Joubert syndrome.

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