OverviewIn Gaucher disease, liver and spleen enlargement (hepatosplenomegaly) can occur as the result of the liver not processing glucocerebroside properly. The buildup of this substance in body tissues can also lead to severe damage to the central nervous system in infants.
Review Date 11/25/2014
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.