Osteopetrosis associated with familial paraplegia: report of a family

A clinical analysis of three members of a family with documented osteopetrosis and familial paraplegia is presented. All patients had a long history of increased bone density and slowly progressing paraparesis of both legs. A thorough review of the literature has revealed no other cases which presented with paraplegia without spinal cord compression. Although the etiologic factor or factors remain unknown, our review supports the contention that this is a distinct clinical entity.