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Joubert syndrome

Case contributed by Hani Makky Al Salam
Diagnosis almost certain

Presentation

Hypotonia

Patient Data

Age: 20 months
Gender: Female
mri

Superior cerebellar peduncles are thickened elongated with midline cleft at the pontomesencephalic junction, giving molar tooth appearance. Hypoplasia of inferior vermis giving bat wing appearance of fourth ventricle.

Case Discussion

MRI appearances are typical of Joubert syndrome. Note the molar tooth sign

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