Patients affected by type 1 Gaucher disease (an autosomal recessive inheritance lysosome storage disorder) develop nodular splenomegaly in 20 to 30% of cases where imiglucerase therapy proves ineffective. The lack of response to imiglucerase therapy on spleen nodules could be an indication of the existence or development of a malignant spleen. We report a 47-year-old man with Gaucher disease who presented with a voluminous splenic nodule, in whom therapy was delayed. Regular monitoring of patients is the most important factor to predict and therefore prevent morbidity.
Gaucher Disease Humans