Allogeneic bone-marrow transplantation in infantile malignant osteopetrosis.

Two infants with malignant osteopetrosis were treated by allogeneic bone-marrow transplantation after marrow ablation with busulphan and cyclophosphamide. Engraftment without graft-vs-host disease occurred in both cases. The first child established stable chimerism and is clinically well 30 months after receiving a histocompatible sibling bone-marrow graft: haematological, radiological, and biochemical features of osteopetrosis have completely resolved. The second child was non-identical with the marrow donor (his older sister) at a single HLA-B locus and received cyclosporin A as prophylaxis for graft-vs-host disease. 11 months after transplantation haematological abnormalities have resolved and radiological features have improved. The findings indicate that allogeneic bone-marrow transplantation should be considered the treatment of choice for infants with severe osteopetrosis who have histocompatible siblings.