Joubert syndrome

Case contributed by Dr Hani Salam

Presentation

No clinical information available.

Patient Data

Age: Child

MRI brain

Modality: MRI

MRI of a child demonstrates absence of the cerebellar vermis with the cerebellar hemispheres apposed in the midline, without fusion. The mid brain has a characteristic molar tooth configuration. 

Molar tooth and bat wing signs

Modality: Annotated image

Joubert syndrome is home to two signs: the molar tooth sign of the midbrain, and the bat wing configuration of the 4th ventricle. 

  • Molar tooth photo credit: Gleam (more information here)
  • Fruit bat photo credit: Marion Schneider & Christoph Aistleitner (more information here)

Case Discussion

This case illustrates the typical features of Joubert syndrome, with both the molar tooth appearance of the midbrain and bat wing configuration of the 4th ventricle. 

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Case Information

rID: 8595
Case created: 15th Feb 2010
Last edited: 31st May 2016
Tag: brain
Inclusion in quiz mode: Included

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