AB029. Rare condition of hepatic Gaucheroma in a type I Gaucher patient with enzyme replacement therapy

摘要

BackgroundGaucher disease is a lysosomal storage disorder, characterized by hepatosplenomegaly, pancytopenia, and neurological manifestation. Herein, we present a 3-year-old boy with type I Gaucher disease who had been treated with enzyme replacement therapy (ERT), and subsequently developed a focal Gaucheroma in the liver after 19 months of ERT.