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- total aplasia of cerebellar vermis
- failure of formation of decussation of superior cerebellar peduncles
- lack of pyramidal decussations
- other anomalies of midbrain crossing tracts and their nuclei
- associated anomalies: renal cysts, ocular abnormalities, liver fibrosis, hypothalamic hamartomas, polymicrogyria
clinical presentation
- tachypnea
- abnormal eye movements
- ataxia
- occasionally clinically normal
MRI
- cleft within vermis
- small midbrain
- superior peduncles enlarged
- molar tooth appearance: seen on axial images, due to lack of superior cerebellar decussation
- batwing appearance: due to enlarged 4th ventricle with cerebellar hypoplasia, midline vermian cleft and dysplastic small vermis