Congenital vermian hypoplasia (Joubert's syndrome)

Case contributed by Dr Mohammad A. ElBeialy

Presentation

Abnormal eye movement.

Patient Data

Age: 8 Months
Gender: Male
  • mild cerebellar vermian hypoplasia with abnormal folia pattern, abnormally dilated 4th ventricle having umbrella or bat-wing configuration and molar tooth configuration of the midbrain
  • slight dilatation of the supratentorial ventricular system
  • no mass lesion
  • normal cortical sulci, no extra-axial collection

Conclusion

Congenital vermian hypoplasia (Joubert’s syndrome).

Case Discussion

The cerebellar vermian hypolplasia as well as molar tooth brainstem and Bat-wing or umbrella- shaped 4th ventricle together with cleft vermis are diagnostic of Joubert syndrome.  

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Case information

rID: 23415
Published: 13th Jun 2013
Last edited: 3rd Feb 2020
Tag: joubert
Inclusion in quiz mode: Included

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