Electron microscopic studies in lipid storage disease.
Biopsy and autopsy specimens from patients with Gaucher's disease and Niemann-Pick disease were studied ultrastructurally. The morphological features were compared with those obtained from paraffin-embedded tissues after reprocessing the tissue for electron microscopy. With routine glutaraldehyde-osmium fixation, both surgical and autopsy specimens from Gaucher's disease showed cytoplasmic bodies containing elongated tubular structures with a translucent appearance. Tissue processed from paraffin-embedded blocks showed moderate preservation of the cytoplasmic glucocerebroside-containing bodies in Gaucher's disease. Routine fixation for electron microscopy of surgical of surgical and autopsy specimens from Niemann-Pick disease showed characteristic cytoplasmic vacuolated formations which were frequently multilaminated. These sphingomyelin-containing vacuoles were poorly preserved in tissue reprocessed from paraffin blocks.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D005260:Female; D005776:Gaucher Disease / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D008099:Liver / Q000648:ultrastructure*; D008198:Lymph Nodes / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009206:Myocardium / Q000648:ultrastructure; D009542:Niemann-Pick Diseases / Q000473:pathology*; D013154:Spleen / Q000648:ultrastructure*; D014617:Vacuoles / Q000648:ultrastructure