Case report Successful unrelated bone marrow transplantation for Shwachman- Diamond syndrome

Summary: A 5-year-old boy with Shwachman‐Diamond syndrome underwent unrelated HLA-identical bone marrow transplantation for severe pancytopenia. Conditioning was 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 transient. After a follow-up of 32 months, the patient is alive and enjoys a normal life, off any immunosuppressives. Immunological and hematological reconstitution is complete while other phenotypic characteristics (pancreatic insufficiency, short stature, femur dysostosis) are stable. Although experience in this field is scarce, we speculate that bone marrow failure in Shwachman‐Diamond syndrome (even if not linked to the appearance of clonal disorders or leukemic transformation) is an indication for bone marrow transplantation and may be associated with a better outcome.