Pathological study on a severe sialidosis (α-neuraminidase deficiency)

摘要: A 56-day-old infant with α-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites which resembled those in infantile sialidosis, was autopsied. Perforation, pathogenesis unclear, found on the descending portion duodenum. Light electron microscope studies showed that neurons cerebral cerebellar corticies, thoracic spinal cord contained membrane-bound vacuoles but no membranous cytoplasmic bodies. Zebra bodies were only cord. The paraganglion Auerbach's myenteric plexus also distended numerous vacuoles. Hepatocytes, endothelial cells Kupffer liver glomerular tubular epithelial kidney swollen a number although patient none renal involvement. These pathological changes similar to nephrosialidosis reported by Le Sec et al. [Arch Fr Pediatr 35:819–829 (1978)].