lysosomal storage diseases

What are the Histological Features of Lysosomal Storage Diseases?

The histological features of LSDs vary depending on the specific disease and affected tissues but generally include:
1. Enlarged lysosomes filled with undigested substrates.
2. Cellular hypertrophy and vacuolation.
3. Presence of inclusion bodies or granules within the cytoplasm.
4. Tissue fibrosis and organomegaly in severe cases.
For instance, in Gaucher Disease, histology may reveal "Gaucher cells," which are macrophages with a "wrinkled tissue paper" appearance due to the accumulated glucocerebroside.

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