Presentation
Developmental delay and hypotonia.
Patient Data
Age: 5 years
Gender: Male
From the case:
Joubert syndrome
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Hypoplasia of the cerebellar vermis with prominent thickened elongated superior cerebellar peduncles gives the midbrain a characteristic molar-tooth sign appearance with a bat-wing configuration of the fourth ventricle.
Case Discussion
The MRI findings are characteristic of Joubert syndrome.
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