LECTIN HISTOCHEMISTRY OF INFANTILE LYSOSOMAL STORAGE DISEASE-ASSOCIATED WITH OSTEOPETROSIS

In infantile lysosomal storage disease associated with osteopetrosis t he nature of the enzyme deficiency as well as the type of material acc umulated are both unknown. We used lectin histochemistry to characteri ze the storage material of previously reported cases. Using paraffin s ections neurons stained positively with Luxol fast blue (LFB), periodi c acid-Schiff (PAS), Concanavalia ensiformis agglutinin, Datum stramon ium agglutinin, Griffonia simplicifolia-I, Lens culinaris agglutinin, Ricinus communis aglutinin-I, succinylated wheat germ aggluninin and w heat germ agglutinin, indicating an accumulation of fucosylated N-glyc osidically linked oligosaccharides containing beta- and alpha-galactos yl residues and compounds containing N-acetyllactosamine. Reticuloendo thelial cells in liver and in spleen did not stain with LFB, but did s tain with PAS and the above lectins. These results indicate that there is storage of both carbohydrates and lipids in neurons, and stored ca rbohydrates with similar residues in reticuloendothelial cells in this disease, where the primary defect is still unknown.