Joubert syndrome

Case contributed by Dr Sherif Shebl Kotkata

Presentation

Patient presented with nystagmus and ataxia.

Patient Data

Age: 9 years
Gender: Male
MRI

MRI shows marked hypoplasia of the cerebellar vermis with the cerebellar hemispheres in direct contact in the midline without fusion. (i.e. not rhombencephalosynapsis

Hypoplasia of the superior cerebellar peduncles and distortion of the fourth ventricle results in the molar tooth sign and bat wing 4th ventricle

 

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Case information

rID: 53610
Published: 26th May 2017
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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