Rhombencephalosynapsis

Case contributed by Dr Jeremy Jones

Presentation

General developmental delay. Failure to reach milestones. No regression. Normal head size. Ex-preterm (32/40).

Patient Data

Age: 4 years
Gender: Male
MRI

Myelination is complete. 

Normal cortical and deep grey matter. Normal white matter. Normal midline structures (including pituitary and corpus callosum).

Absent vermis and failure of cleavage of the two cerebellar hemispheres - appearance of rhombencephalosynapsis.

Case Discussion

Isolated, uncomplicated rhombencephalosynapsis.

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Case information

rID: 65950
Published: 30th Jan 2019
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included
Institution: NHS Lothian

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