title: Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boy.
abstract: The childhood cerebral form of X-linked ALD is a demyelinating disorder of the central nervous system, which rapidly leads to total disability and death. Allogeneic stem cell transplantation benefits patients who show early evidence of the demyelination. We report here a one-yr-old boy with ALD who received HLA-matched unrelated BMT in an early stage of the disease after careful planning and observation since his birth. BMT was performed when MRI began to show slight signal intensity changes in the white matter of the brain. Pretransplant conditioning consisted of fludarabine, l-PAM and TBI (2 Gy). GVHD prophylaxis consisted of cyclosporine A and short-course methotrexate. The patient showed an uneventful BMT course with fast and stable engraftment. Following BMT, the plasma levels of VLCFA decreased gradually and MRI changes improved. The patient did not have any evidence of further neurological deterioration 22 months following the transplant. Although this is still a short follow-up, it has been shown that BMT should be considered when a child has a biochemical diagnosis and MRI findings of ALD without any neurological signs. RIST should be considered as a pretransplant conditioning for ALD.
authors.affiliation: Department of Pediatrics, University of Tokushima Graduate School of Medical Science, Tokushima, Japan.
authors.forename: Kazumi
authors.initials: K
authors.lastname: Okamura
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Watanabe
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Onishi
authors.forename: Hiroyoshi
authors.initials: H
authors.lastname: Watanabe
authors.forename: Emiko
authors.initials: E
authors.lastname: Fujii
authors.forename: Kenji
authors.initials: K
authors.lastname: Mori
authors.forename: Junko
authors.initials: J
authors.lastname: Matsuda
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000235:genetics / Q000276:immunology / Q000601:surgery*; D016026:Bone Marrow Transplantation / Q000276:immunology*; D005227:Fatty Acids / Q000097:blood; D006086:Graft vs Host Disease / Q000517:prevention & control; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017354:Point Mutation; D019172:Transplantation Conditioning / Q000379:methods*
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D005227:Fatty Acids; D007166:Immunosuppressive Agents