Unclassified cerebellar dysplasia
Unclassified cerebellar dysplasia is defined as focal or diffuse dysplasia of cerebellar hemispheres or vermis not associated with other known malformations or syndromes.
Clinical presentation
Can present with hypotonia, microcephaly or speech delay.
Radiographic features
MRI
- asymmetry or focal disruption of cerebellar folial and sulcal morphology
- disorganized and disordered foliation
- enlarged and vertically oriented fissures
- cerebellar gray white matter heterotopia
- bumby gray-white matter interface in cerebellum
- lack of normal arborization of white matter
- abnormal hyperintense signal in subcortical white matter
Associated findings
- corpus callosal agenesis/dysgenesis
- macro-/microscopic heterotopia
- cerebral cortical dysplasia
Differential diagnosis
On imaging consider:
- cerebellar dysplasia associated with lissencephaly (congenital muscular dystrophy)
- rhombencephalosynapsis: fused cerebellar hemispheres with vermian hypo/aplasia
- molar tooth malformation (Joubert syndrome)
See also
