Successful unrelated bone marrow transplantation for Shwachman-Diamond syndrome

A 5-year-old boy with Shwachman-Diamond syndrome underwent unrelated HLA-id entical bone marrow transplantation for severe pancytopenia, Conditioning w as with busulfan, thiotepa and cyclophosphamide plus rabbit anti-lymphocyte serum, Engraftment for neutrophils and platelets was observed on days +18 and +41, respectively. Transplant-related side-effects were mild and transi ent. After a follow-up of 32 months, the patient is alive and enjoys a norm al life, off any immunosuppressives. Immunological and hematological recons titution is complete while other phenotypic characteristics (pancreatic ins ufficiency, short stature, femur dysostosis) are stable, Although experienc e in this field is scarce, we speculate that bone marrow failure in Shwachm an-Diamond syndrome (even if not linked to the appearance of clonal disorde rs or leukemic transformation) is an indication for bone marrow transplanta tion and may be associated with a better outcome.