Presentation
Developmental delay. Ataxia.
Patient Data
Age: 2 year old
Gender: Male
From the case:
Joubert syndrome
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- Prominent thickened elongated superior cerebellar peduncles giving characteristic molar tooth sign
- "bat-wing" configuration of the 4th ventricle
- hypoplasia of the cerebellar vermis
- right cerebellar hemisphere asymmetry with disorganized and disordered foliation, abnormal white atter arborization and vertically oriented cleft
Case Discussion
Joubert syndrome associated with right cerebellar dysplasia.
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