Joubert syndrome

Case contributed by Maxime St-Amant
Diagnosis almost certain

Presentation

Oculomotor ataxia with tachypnea.

Patient Data

Age: 9 months
Gender: Male

Note: This case has been tagged as "legacy" as it no longer meets image preparation and/or other case publication guidelines.

Brain

mri

Batwing deformity of the 4th ventricle associated with molar-tooth sign in a patient with Joubert syndrome. Note the vermian dysgenesis.

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