Isolated rhombencephalosynapsis diagnosed by magnetic resonance imaging

A case of human rhombencephalosynapsis diagnosed in vivo by magnetic resonance imaging (MRI) is presented that demonstrates fusion of the dentate nuclei and agenesis of the cerebellar vermis. To our knowledge, this condition in its isolated form has been previously diagnosed only at necropsy. The developmental features of the cerebellum are discussed and correlation with cerebellar function is also presented. Recognition of this anomaly in the living patient may be useful in further understanding the clinical significance of segmentation of the rhombencephalon.