Joubert syndrome (congenital vermian hypoplasia)

Case contributed by Dr Mohammad A. ElBeialy

Presentation

16 months old female with hypotonia, abnormal eye movement, attacks of hyperpnea with tongue protrusion.

Patient Data

Age: 16 months
Gender: Female
  • 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).

PlayAdd to Share

Case information

rID: 27965
Case created: 28th Feb 2014
Last edited: 1st Jul 2017
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.