Successful outcome of allogeneic stem cell transplantation in Seckel syndrome |
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| Authors: | Luiz Guilherme Darrigo Jr Maria Carolina Rodrigues Fabiano Pieroni Ana Beatriz Pereira Lima Stracieri Daniela Aparecida Moraes Carlos Eduardo Setanni Grecco Juliana Bernardes Elias Dias Ana Carolina Sobral Belinda Pinto Simões |
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| Affiliation: | 1. Bone Marrow Transplantation Unit, Ribeir?o Preto Medical School, University of S?o Paulo, , S?o Paulo, Brazil;2. Pediatric Oncology Unit, Ribeir?o Preto Medical School, University of S?o Paulo, , S?o Paulo, Brazil;3. Bone Marrow Transplantation Unit, Division of Clinical Immunology, Ribeir?o Preto Medical School, University of S?o Paulo, , S?o Paulo, Brazil;4. Bone Marrow Transplantation Unit, Division of Hematology, Ribeir?o Preto Medical School, University of S?o Paulo, , S?o Paulo, Brazil |
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| Abstract: | ![]()
Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders. We report the case of a six‐yr‐old boy with Seckel syndrome and aplastic anemia who underwent successful allogeneic bone marrow transplantation from ten of ten HLA matched unrelated donor. Currently the patient is on D+771, in good health conditions and with no further complications. In conclusion, this case indicates that bone marrow transplantation is an acceptable therapeutic option for Seckel syndrome complicated by hematological alterations. |
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| Keywords: | allogeneic stem cell transplantation bone marrow transplantation children pediatrics |
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