Cytologic Features of Gaucher's Disease in the Spleen: A case Report / 대한세포병리학회지

ABSTRACT

Gaucher's disease is an autosomal recessive disorder resulting fror i mutation at the glucocerebrosidase locus on chromosome 1q21. As a result, glucocerebroside accumulates principally in the phagocytic cells known as Gaucher ce Is. In our case, a five-year old girl was admitted with seven days history of fever and abdominal distension. At physical examination the patient had hepatosplenomegaly. Laboratory tests revealed a hemoglobin concentration of 2.8g/L: platelet counts of 23,0001?l: normal range of white cell and differential counts, and negative Coombs' test. Liver enzymes were normal. For the evaluation of hepatosplenomegaly, fine needle aspiration was aerformed blindly against the palpable spleen. Wet-fixed hematoxylin and eosin-stained smears are made. The smears from the spleen showed predominantly macrophages with abundant cytoplasm and rather small, uniform, often eccentric nuclei with small nucleoli. The multinucleated cells were often found. The cytoplasm was pale, with more or less distinct fibrillarity. The cells had the characteristic appearance of Gaucher cells. Gaucher cells were also found it the tissue section from the liver, spleen and lymph node and the bone marrow aspirate. The diagnosis was later confirmed by determination of beta-glucosidase activity in peripheral blood leucocytes. Fine needle aspiration of the spleen is considered as a convenient procedure with a low complication rate for the diagnosis of lysosomal storage disease.