Voluminous nodular splenomegaly in Gaucher disease: A case report

Patients affected by type I 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. (C) 2009 Societe nationale francaise de medecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.