Successful outcome of allogeneic stem cell transplantation in Seckel syndrome.
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.
Bone 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.
Luiz Guilherme
LG
Darrigo
Maria Carolina
MC
Rodrigues
Fabiano
F
Pieroni
Ana Beatriz Pereira Lima
AB
Stracieri
Daniela Aparecida
DA
Moraes
Carlos Eduardo Setanni
CE
Grecco
Juliana Bernardes Elias
JB
Dias
Ana Carolina
AC
Sobral
Belinda Pinto
BP
Simões
D000483:Alleles; D000741:Anemia, Aplastic / Q000150:complications / Q000628:therapy*; D016026:Bone Marrow Transplantation; D002648:Child; D016572:Cyclosporine / Q000627:therapeutic use; D004392:Dwarfism / Q000150:complications / Q000628:therapy*; D019066:Facies; D005260:Female; D006680:HLA Antigens; D006801:Humans; D019520:Living Donors; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000628:therapy*; D008875:Middle Aged; D033581:Stem Cell Transplantation / Q000379:methods*; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous / Q000379:methods; D016896:Treatment Outcome
D006680:HLA Antigens; D016572:Cyclosporine
allogeneic stem cell transplantation; bone marrow transplantation; children; pediatrics