Presentation
Patient presented with nystagmus and ataxia.
Patient Data
Age: 9 years
Gender: Male
From the case:
Joubert 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/59661/annotated_viewer_json?lang=us"}
MRI shows marked hypoplasia of the cerebellar vermis with the cerebellar hemispheres in direct contact in the midline without fusion. (i.e. not rhombencephalosynapsis).
Hypoplasia of the superior cerebellar peduncles and distortion of the fourth ventricle results in the molar tooth sign and bat wing 4th ventricle.
Unable to process the form. Check for errors and try again.