Neuropediatrics 1985; 16(2): 109-112
DOI: 10.1055/s-2008-1052553
© Georg Thieme Verlag KG Stuttgart · New York

Ultrastructural Study on a Severe Infantile Sialidosis (β-Galactosidase - α-Neuraminidase Deficiency)

T.  Yamano1 , M.  Shimada1 , H.  Sugino2 , T.  Dezawa2 , M.  Koike3 , S.  Okada4 , H.  Yabuuchi4
  • 1Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan
  • 2Pediatric Clinic, Saiseikai-Arita Hospital, Wakayama, Japan
  • 3Department of Pediatrics, Wakayama Medical College, Wakayama, Japan
  • 4Department of Pediatrics, Osaka University Hospital, Osaka, Japan
Further Information

Publication History

Publication Date:
30 April 2008 (online)


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.