Gaucher's disease is an autosomal recessive
lysosomal storage disease resulting from
glucocerebrosidase deficiency. In this report, five patients with adult
Gaucher's disease are described. The
clinical course of these patients was characterized by progressive diffuse aseptic
necrosis in the large bones, so-called Erlenmeyer's flask
deformity, and hepatosplenomegaly.
Splenomegaly was accompanied by
hypersplenism with
anemia and
thrombocytopenia, therefore
splenectomy was performed. The diagnosis of
Gaucher's disease was based on the finding of Gaucher's cells on bone marrow biopsy. Tissue blocks were cut and routinely processed. Slides staining for
iron (Peris' blue) and PAS (
periodic acid--Schiff) including immunohistochemical staining for CD68 and
HLA-DR was performed in all five cases. Gaucher's cells were seen as large cells with granular or fibrillar distended cytoplasm, with the characteristic 'wrinkled tissue paper' appearance, and eccentric nuclei. PAS staining showed strongly positive granular or fibrillar material in the cytoplasm. Immunohistochemical
stain for CD68 and
HLA-DR helped identify isolated Gaucher's cells, which are hystiocytic in nature. This
stain accentuates their fine linear striations. Small pieces were ultrastructurally analyzed.