Presentation
Abnormal eye movement.
Patient Data
Age: 8 Months
Gender: Male
From the case:
Congenital vermian hypoplasia (Joubert's syndrome)
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- mild cerebellar vermian hypoplasia with abnormal folia pattern, abnormally dilated 4th ventricle having umbrella or bat-wing configuration and molar tooth configuration of the midbrain
- slight dilatation of the supratentorial ventricular system
- no mass lesion
- normal cortical sulci, no extra-axial collection
Conclusion
Congenital vermian hypoplasia (Joubert’s syndrome).
Case Discussion
The cerebellar vermian hypoplasia as well as molar tooth brainstem and Bat-wing or umbrella-shaped 4th ventricle together with cleft vermis are diagnostic of Joubert syndrome.
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