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Pediatr Transplant. 2014 May;18(3):E93-5. doi: 10.1111/petr.12230. Epub 2014 Feb 1.

Successful outcome of allogeneic stem cell transplantation in Seckel syndrome.

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  • 1Bone Marrow Transplantation Unit, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil; Pediatric Oncology Unit, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.


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.

© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


allogeneic stem cell transplantation; bone marrow transplantation; children; pediatrics

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