Multiple myeloma in an adult with Gaucher disease

A 69-year-old man evaluated for massive enlargement of the spleen was found to have type I Gaucher disease, which is the nonneuropathic variant with predominant bone manifestations. Enzyme assays confirmed the diagnosis, A bone marrow smear performed as part of the evaluation for Gaucher disease showed not only numerous Gaucher cells but also 20% of dystrophic plasma cells. Serum tests showed a monoclonal kappa IgA (19 g/L) and hypogamma-globulinemia. Splenectomy was performed because of severe pancytopenia. A review of the literature found only ten similar cases, although polyclonal or monoclonal hypergammaglobulinemia have frequently been reported in Gaucher's disease. This case-report underlines the importance of diagnostic criteria for confirming the diagnosis of Gaucher disease (specific enzyme assays) and of multiple myeloma.