AN AUTOPSY CASE OF OSTEOGENESIS IMPERFECTA CONGENITA—–HISTOCHEMICAL and ELECTRON MICROSCOPICAL STUDIES—–

An autopsy case of a female infant aged nine hours, with osteogenesis imperfecta congenita is presented. Histochemical and electron microscopical studies were performed on the bones, skin and eyes of this case, comparing with normal control. In the periosteum, corium layer of the skin, sclera and cornea of the eyes of this case, the connective tissue mostly consisted of thin and delicate fibers, instead of the usual collagen fibers. Histochemically, these fibers showed PAS‐positive, argyrophilic and acid mucopolysaccharide negative properties. They were composed of uniform and slender fibrils which had a cross‐striatlon periodicity at 200–400 Å intervals and thickness at 400 Å, in contrast with the cross‐striation periodicity at 640–700 A intervals and thickness at 1,000 A of the usual collagen. The presence of this collagen in the bone matrix caused irregular and granular calcium depositions. Augmented reaction of chondroitin sulfate A or C was seen in the epiphyseal cartilaginous matrix, central core of primary bone and of basophilic osteoid trabecule, and in the cartilaginous callus. On the other hand, periosteal basophilic osteoid bone, periphery of primary bone and of basophilic osteoid trabecule showed intense PAS‐positive, argyrophilic and acid mucopolysaccharide negative characteristics. The relationship between the pathogenesis of this disease and the disturbance of collagen formation as well as the augmented chondroitin sulfate A or C in the matrix of connective tissue was discussed.