A CASE OF TYPE-I GAUCHER DISEASE WITH CARDIOPULMONARY AMYLOIDOSIS ANDCHITOTRIOSIDASE DEFICIENCY

Severe cardiopulmonary amyloidosis developed several months after a to tal splenectomy in a patient with type 1 Gaucher disease and led withi n a year to his death at 48 years of age. The autopsy findings were do minated by extensive pulmonary and cardiac amyloid infiltration. No Ga ucher cells were found in the lungs. Aside from a glucocerebrosidase d eficiency the patient was also deficient in chitotriosidase, an enzyme whose activity is usually greatly increased in the serum of Gaucher p atients. Analysis of mutations in the glucocerebrosidase gene revealed heterozygosity for N370S and D409H mutations. The normal amount of gl ucocerebrosidase was found in the spleen by Western blotting. We sugge st that amyloidosis should be considered in the differential diagnosis of severe cardiopulmonary disease in Gaucher patients.