12th Ljudevit Jurak International Symposium on
Comparative Pathology
Zagreb
June 1-2, 2001
 

POSTER PRESENTATION
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 Gaucher’scells.
Poster Presentation