Involvement of peripheral nerve and muscle in Fabry's disease: histologic, ultrastructural, and morphometric studies

AAF Sima, DM Robertson - Archives of neurology, 1978 - jamanetwork.com
• Light microscopic and ultrastructural studies of biopsy specimens from the sural nerve and
the gastrocnemius muscle in a patient with Fabry's disease showed accumulation of lipids in
endothelial and perithelial cells of the vessel walls. In addition, the peripheral nerve
exhibited deposition of lipids in the perineurial cells, occasionally in unmyelinated and
myelinated axons, and infrequently in Schwann cell cytoplasm. In the muscle biopsy
specimen, stored lipid was found in the sarcoplasm. Quantitative histologic studies showed …