Summary:Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic dysfunction, metaphyseal dysostosis and bone marrow dysfunction with a predilection towards severe hematologic complications. Allogeneic bone marrow transplantation has been used as a theraputic approach for SDS patients with serious hematologic abnormalities with mixed results. There is some concern that these patients may be more suceptible to early (Ͻ100 days) transplantrelated complications than other transplant groups. We report a patient who received a matched allogeneic transplant without developing serious early transplantrelated complications, but eventually died from relapse of his disease. Although experience is limited, a review of the reported cases suggests patients with SDS may be transplanted without significant short-term morbidity and mortality. Bone Marrow Transplantation (2002) 30, 255-258. doi:10.1038/sj.bmt.1703631 Keywords: Shwachman-Diamond syndrome; allogeneic transplant; aplastic anemia; myelodysplasia; congenital anemia; pancreatic insufficiency Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder first described in 1964. 1 The syndrome is characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis and bone marrow dysfunction. 2 The hematologic abnormalities associated with SDS include varying cytopenias, marrow aplasia and myelodysplasia. About 20% of SDS patients develop aplastic anemia, 3 20-33% develop myelodysplasia 4,5 and 12-25% eventually transform into acute leukemia. [3][4][5][6] Since its initial description, approximately 300 cases have been reported.There is limited information on long-term survival. The projected median survival for all patients is 35 years, with infections and hemorrhage being the major causes of mortality. Predictably, survival is shorter for patients with significant hematologic problems with median survivals of 14 years in patients with aplastic anemia and 9 years in patients with leukemia. 2 Supportive treatment with transfusions, antibiotics and pancreatic enzymes allow for prolonged survival without altering the risk of developing severe hematologic complications. Treatment of myelodysplasia or leukemic transformation with chemotheraputic agents, however, is associated with low response rates and a poor prognosis.Allogeneic bone marrow transplantation is emerging as a valuable therapeutic option, especially when leukemia or marrow aplasia have developed. Because of the rarity of the syndrome, experience is limited and no definitive indications for transplantation have been established. Early attempts were associated with significant toxicity and mortality which were thought to be related to nonspecific organ dysfunction caused by the syndrome. 7 We report a patient with SDS who received an allotransplant without significant 100 day transplant-related toxicity. We also reviewed the outcomes of other patients published in the literature and noticed several trends that may provide some guidance in the timing ...