Presentation
Abnormal eye movement.
Patient Data
Age: 8 Months
Gender: Male
From the case:
Congenital vermian hypoplasia (Joubert's syndrome)
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/23484/annotated_viewer_json?iframe=true\u0026lang=us"}
- 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.