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Fabry Disease : Electron Microscopy

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Ultrastructural Findings in Fabry Disease: Transmission electron microscopy shows numerous laminated inclusion bodies within the myocyte cytoplasm causing disruption and displacement of myofibrils. These inclusion bodies have concentric myelin-like structure or parallel lamellae with alternating light and dark bands (zebra bodies). The inclusion bodies are also seen in visceral epithelial cells of glomeruli, tubular epithelium of distal convoluted tubules and loops of Henle, endothelial cells and smooth muscle cells of blood vessels. Similar structures may also be seen in kidneys with chloroquine toxicity and I-cell disease.

Image courtesy of: Dr. Esther Youd, Autopsy Pathologist, Univ. of Glasgow, Glasgow, Scotland; used with permission.

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