Presentation
Hypotonia, abnormal eye movement, attacks of hyperpnea with tongue protrusion.
Patient Data
Age: 16 months
Gender: Female
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/28222/annotated_viewer_json?c=1699390541\u0026lang=us"}
Multiple abnormalities are demonstrated:
- abnormal configuration of the midbrain with typical "molar tooth" appearance
- enlarged 4th ventricle with "bat-wing" configuration and enlarged cisterna magna
- absent cerebellar primary fissure and fastigial point
- hypoplasia of the vermis with clefting of the superior cerebellar vermis
- pituitary hypoplasia
Case Discussion
Molar tooth configuration of the midbrain with vermian hypoplasia and clefting are typical diagnostic findings for Joubert syndrome (congenital vermian hypoplasia).
Unable to process the form. Check for errors and try again.