12th Ljudevit Jurak
International Symposium on
June 1-2, 2001
|GAUCHER ’S DISEASE IS AN AUTOSOMAL RECESSIVE LYSOSOMAL
STORAGE DISEASE GLUCOCEREBROSIDASE DEFICIENCY
|B. Bogoeva, G. Petruševska
Institute of Pathology, Medical Faculty, Skopje, R. Macedonia
|In this report we describe five patients with ”adult” Gaucher‘s disease.
The clinical course of these patients was characterized by:
- Progressive diffuse aseptic necrosis in the large bones and hepatosplenomegaly.
- Splenomegaly was followed by hypersplenism with anemia and
a thrombocythopenia because a splenectomy was performed.
The diagnosis of Gaucher‘s disease was made after Gaucher‘s cells were
found in the bone marrow biopsy.
Tissue blocks were routinely processed. Slides were stained with:
- H.E. (hematoxylin and eosin),
- staining for iron, Pearl’ s blue,
- and PAS (periodic acid - Schiff),
- immunohistochemical staining for CD 68 and HLA-DR.
Gausher‘s cells were seen as large cells with granular or fibrillar
distended cytoplasm, with the characteristic ”wrinkled tissue paper”, and
an eccentric nuclei. PAS staining showed strongly positive granular or
fibrillar material in the cytoplasm.
Immunohistochemical stain for CD 68 and HLA-DR helped to identify isolated