Cerebellar agenesis
Overview
A rare disorder characterized by an absent or underdeveloped portion of brain called the cerebellum which controls muscle and balance. Partial absence may cause little or no symptoms but complete absence results in movement and muscle problems
Symptoms
* Low muscle tone * Uncontrollable quivering * Uncontrollable movements * Involuntary eye movements * Inability to coordinate muscle movements
Diagnosis
signs and symptoms of Cerebellar agenesis may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Cerebellar agenesis symptoms.
Resources
Cerebellar agenesis is a rarely observed malformation that is frequently associated with other defects. We describe a neonate with an isolated cerebellar agenesis. In addition to the absence of recognizable cerebellar tissue, cranial magnetic resonance imaging demonstrated a hypoplastic base of the pons and absence of the normal outline of the inferior olives. Other major cerebral malformations were not found. As a developmental defect, cerebellar agenesis is heterogeneous because it occurs 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.