Presentation
Young child presented with global developmental delay and intellectual disability.
Patient Data
Age: 9 years
Gender: Male
From the case:
Joubert syndrome
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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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