Ultrastructural study on a severe infantile sialidosis (β-galactosidase-α-neuraminidase deficiency)

摘要: This study was undertaken to elucidate ultrastructural changes in a severe infantile sialidosis. The materials examined this consisted of biopsied rectal mucosa and autopsied small intestine, liver kidney. In the biopsy sample, axons contained number pleomorphic electron dense bodies, numerous membrane-bound vacuoles were found Schwann's cells, fibroblasts, endothelial lymphocytes plasma cells. autopsy samples, neurons Auerbach's myenteric plexus intestine filled with membranous cytoplasmic bodies vesicles containing materials. Hepatocytes liver, glomerular tubular epithelial cells kidney also extended by vacuoles. These sialidosis closely resemble those GM1-gangliosidosis type 1.