lysosomal storage disorders

What are the Histological Features of Lysosomal Storage Disorders?

Histological examination of tissues from patients with LSDs reveals several characteristic features. These may include:
- Enlarged cells: Cells may appear swollen due to the accumulation of undigested substrates.
- Inclusions: The presence of various types of inclusions within cells, such as zebra bodies in Fabry disease.
- Foamy cytoplasm: In some LSDs, like Niemann-Pick disease, the cytoplasm may appear foamy due to lipid accumulation.
- Periodic acid-Schiff (PAS) staining: This special stain can highlight glycogen or other polysaccharides that accumulate in certain LSDs, such as Pompe disease.

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