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.