Joubert syndrome

Case contributed by Dr Dalia Ibrahim

Presentation

Developmental delay. Ataxia.

Patient Data

Age: 2 year old
Gender: Male
MRI
  • Prominent thickened elongated superior cerebellar peduncles giving characteristic molar tooth sign
  • "bat-wing" configuration of the 4th ventricle
  • hypoplasia of the cerebellar vermis
  • right cerebellar hemisphere asymmetry with disorganized and disordered foliation, abnormal white atter arborization and vertically oriented cleft

Case Discussion

Joubert syndrome associated with right cerebellar dysplasia.

PlayAdd to Share

Case information

rID: 51880
Published: 11th Mar 2017
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

Updating… Please wait.

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

 Thank you for updating your details.