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Currently filtering by tag: X linked disease

Diagnose This (July 13,2020)

Fabry's disease, myelosomes, zebra bodies, X linked disease
What is your diagnosis?   The electron microscopic image depicts a podocyte with numerous myeloid bodies, myelinosomes, or "zebra" bodies as they are also known. This finding, taken in concert with the patient's clinical history was compatible with Fabry's disease. By light microscopy, a characteristic finding is the lacy, or foamy cytoplasm of the podocytes due to the lipid inclusions composed of globotriaosylceramide. Additionally, toluidine blue sections can be extremely helpful in identifying these inclusions. Fabry's disease is classified as a lysosomal storage disease caused by a deficiency in the alpha-galactosidase, an enzyme leading to the accumulation of globotriaosylceramide (GL3)...