Joubert syndrome

Case contributed by Sachin T
Diagnosis almost certain

Presentation

Young child presented with global developmental delay and intellectual disability.

Patient Data

Age: 9 years
Gender: Male
mri
This study is a stack
Axial
T1
This study is a stack
Axial
T2
This study is a stack
Axial
FLAIR
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Info

Mild hypoplasia of the cerebellar vermis with thinning and elongation of the superior cerebellar peduncles giving a molar tooth appearance.

There is deep interpeduncular fossa and abnormally dilated fourth ventricle giving batwing appearance.

Case Discussion

Imaging features are likely suggestive of Joubert syndrome.

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