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 disorganised and disordered foliation, abnormal white atter arborization and vertically oriented cleft

Case Discussion

Joubert syndrome associated with right cerebellar dysplasia.

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Case information

rID: 51880
Case created: 11th Mar 2017
Last edited: 12th Mar 2017
Inclusion in quiz mode: Included

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