Ultrastructural study on a severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency).
This study was undertaken to elucidate ultrastructural changes in a severe infantile sialidosis. The materials examined in this study consisted of biopsied rectal mucosa and autopsied small intestine, liver and kidney. In the biopsy sample, axons contained a number of pleomorphic electron dense bodies, and numerous membrane-bound vacuoles were found in Schwann's cells, fibroblasts, endothelial cells, lymphocytes and plasma cells. In autopsy samples, neurons in Auerbach's myenteric plexus of the small intestine were filled with a number of membranous cytoplasmic bodies, pleomorphic dense bodies and vesicles containing dense materials. Hepatocytes in the liver, and glomerular and tubular epithelial cells in the kidney were also extended by a number of membrane-bound vacuoles. These ultrastructural changes in severe infantile sialidosis closely resemble those in GM1-gangliosidosis type 1.
D001706:Biopsy; D005260:Female; D005733:Gangliosidoses / Q000473:pathology; D006801:Humans; D007223:Infant; D007413:Intestinal Mucosa / Q000648:ultrastructure*; D007668:Kidney / Q000648:ultrastructure*; D007787:Lactose Intolerance / Q000473:pathology*; D008099:Liver / Q000648:ultrastructure*; D008854:Microscopy, Electron; D009197:Myenteric Plexus / Q000648:ultrastructure; D009439:Neuraminidase / Q000172:deficiency*
D009439:Neuraminidase