Rhombencephalosynapsis

Case contributed by Dr Prashant Gupta

Presentation

History of developmental delay with seizures

Patient Data

Age: 11 years
Gender: Female
MRI

Note the fusion of cerebellar hemispheres with absent vermis (suggesting rhombencephalosynapsis). there is ventricular prominence but aqueductal stenosis was not seen (it is a common association).

No other supratentorial anomalies were seen.

Case Discussion

Rhombencephalosynapsis is a congenital abnormality of the cerebellum, with variable degrees of neurological impairment.

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Case information

rID: 19656
Published: 2nd Oct 2012
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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