Open AccessAN AUTOPSY CASE OF FABRY'S DISEASE **
Author(s) -
Machinami Rikuo
Publication year - 1972
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1972.tb00750.x
Subject(s) - pathology , autopsy , fabry's disease , ultrastructure , ganglion , lymph , spinal cord , anatomy , medullary cavity , medicine , biology , fabry disease , disease , neuroscience
An autopsy case of a 35‐year‐old male with Fabry's disease was Investigated histologically, electron microscopically and biochemically. Accumulation of both ceramide‐trihexoslde and ceramide‐dihexoside in the kidney, lymph nodes, nervous ganglion and spinal cord, as well as deficiency of α‐galactosldase in the kidney tissues were found. Electron microscopically the intracellular deposits presented diverse features including those with fingerprint‐like ultrastructure in the medullary cord reticulum cells which were alclan blue positive, rod‐shaped deposits of the capillary endothelial cells of the lymph nodes and several other types of deposits of the spinal ganglion cells.