Cerebellar agenesis is a rarely observed malformation that is frequent
ly associated with other defects. We describe a neonate with an isolat
ed cerebellar agenesis, In addition to the absence of recognizable cer
ebellar tissue, cranial magnetic resonance imaging demonstrated a hypo
plastic base of the pens and absence of the normal outline of the infe
rior olives. Other major cerebral malformations were not found. As a d
evelopmental defect, cerebellar agenesis is heterogeneous because it o
ccurs either as an anatomically isolated anomaly or as part of a more
complex cerebral malformation. The pathogenesis and molecular basis of
isolated cerebellar agenesis is unknown. (C) 1998 by Elsevier Science
Inc. All rights reserved.