Fact-sheet: Rhombencephalosynapsis
Updated on 08/26/2020 at 2:45 PM
Note : 0/10
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Definition
Rare cerebellar malformation characterized by absence or hypoplasia of the vermis, and fusion of the cerebellar hemispheres.
Clinical features
Variable prognosis: intellectual disability, ataxia, dysarthria, strabismus, nystagmus, and behavioral disorders.
MRI
Associated findings on brain MRI:
- Fusion of the dentate nuclei
- Deformity of the 4th ventricle
- Fusion of the cerebellar peduncles
- Hydrocephalus, thalamic fusion
- Corpus callosum abnormality
- Septo-optic dysplasia.
Management
Multidisciplinary management.