Rhombencephalosynapsis

Findings

Fusion of the cerebellar hemispheres with partial absence of the vermis


Diagnosis: Rhombencephalosynapsis


Rhombencephalosynapsis is a unique posterior fossa malformation. The diagnosis is a very uncommon one with ~30 cases in the literature. The patients can present at nearly any age because of the broad range of clinical findings: from normal cognition to severe mental retardation and cerebral palsy. Common associated anomalies include fusion of the dentate nuclei, superior cerebellar peduncles and thalami, absence of septum pellucidum, septo-optic dysplasia, anomalies of limbic system and secondary hydrocephalus.