Fabry's disease: an ultrastructural study of muscle and peripheral nerve.
A 9-year-old boy, presented with disseminated angiomatous lesions on the right leg. Ultrastructural examination of muscle and peripheral nerve showed numerous lamellar inclusions characteristic of Fabry's disease in the vessel's walls and perineurial cells. In addition, there were typical lamellar inclusions in some muscle fibers. Large myelinated fibers were reduced in number and some myelinated fibers showed segmental demyelination. Some lipid deposits displaying a lamellar pattern were occasionally seen in a few myelinated and unmyelinated axons. These abnormalities of nervous fibers are uncommon in Fabry's disease.
D002648:Child; D000795:Fabry Disease / Q000648:ultrastructure*; D006801:Humans; D007866:Leg; D008297:Male; D009132:Muscles / Q000648:ultrastructure*; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D010525:Peripheral Nerves / Q000648:ultrastructure*