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

Background: Gaucher 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.

Methods: Medical records and laboratory data were reviewed.

Results: The patient first presented at 15 months of age with anemia, thrombocytopenia, and hepatosplenomegaly. Gaucher disease was confirmed by leukocyte enzyme assay and GBA gene mutation test. ERT was administered after diagnosis. At the age of 3 years, a lobulated mass was discovered on regular MRI follow-up of abdomen. Biopsy and histological examination of the mass disclosed Gaucheroma.

Conclusions: For type I Gaucher disease, ERT should be started as soon as possible. The age at starting treatment might be the critical factor of long-term prognosis. Gaucheroma is a rare condition found in patients receiving ERT. A regular imaging study is necessary for type I Gaucher patients. A thorough survey should be done in regards to malignancy risk.

Keywords: Gaucher disease; Gaucheroma; enzyme replacement therapy (ERT)