title: Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis.
abstract: Allogeneic hematopoietic stem cell transplantation represents the only curative option for malignant infantile osteopetrosis (MIOP), a rare disease of infants and young children, characterized by excessive accumulation of mineralized bone and abnormal hematopoiesis. We report a case of successful engraftment and stable full-donor chimerism in a patient with MIOP who underwent unrelated donor cord blood transplantation (CBT). The donor was 2-loci human leukocyte antigen (HLA)-mismatch. After a conditioning regimen based on the combination of busulfan, cyclophosphamide, total body irradiation, and antithymocyte globulin, the patient received a dose of 3.85 x 10(7)/kg of nucleated cells. Neutrophil and platelet engraftment had been achieved by day +33 and +82, respectively, and the patient was discharged home on day +89. A successful engraftment of donor hematopoiesis was demonstrated and the child experienced grade II acute graft-vs.-host disease (GVHD) involving the skin only. A remarkable but non-progressive decrease in lumbar spine bone mineral density was observed in the first nine months post-transplant. This case suggests that unrelated donor CBT may be a feasible option in case of unavailability of a fully HLA-matched related or unrelated donor.
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, Chang Gung University and Children's Hospital, Taoyuan, Taiwan. jaing001@cgmh.org.tw
authors.forename: Tang-Her
authors.initials: TH
authors.lastname: Jaing
authors.forename: Jia-Woei
authors.initials: JW
authors.lastname: Hou
authors.forename: Shih-Hsiang
authors.initials: SH
authors.lastname: Chen
authors.forename: I-Anne
authors.initials: IA
authors.lastname: Huang
authors.forename: Chao-Jan
authors.initials: CJ
authors.lastname: Wang
authors.forename: Wei-I
authors.initials: WI
authors.lastname: Lee
mesh_terms: D036101:Cord Blood Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D010022:Osteopetrosis / Q000628:therapy*; D014184:Transplantation, Homologous