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Umbilical cord blood transplantation for Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI)

Bone Marrow Transplantation volume 26, pages 455–458 (2000)Cite this article

Abstract

Severe Maroteaux–Lamy syndrome (mucopoly- saccharidosis type VI) is usually fatal by early adulthood. Bone marrow transplantation is the only form of definitive enzyme replacement therapy available. A 5-year-old boy with Maroteaux–Lamy syndrome has successful recovery of bone marrow and enzymatic functions after umbilical cord blood transplant from his unaffected HLA-identical brother. Busulphan (16 mg/kg) and cyclophosphamide (200 mg/kg) were used as preparative chemotherapy with short methotrexate and long cyclosporin as prophylaxis against graft-versus-host disease (GVHD). A total of 6.08 × 107/kg nucleated cells and 2.92 × 105/kg CD34+cells were transplanted with neutrophil engraftment achieved on day 26. There was no evidence of acute and chronic GVHD. Fifteen months after transplant, a normal level of N-acetylgalactosamine-4-sulphatase activity was achieved despite mixed chimerism. There was clinical improvement of hepatosplenomegaly, facial and skin features, joint mobility and resolution of suppurative middle ear effusion. He returned to school and continued to perform well in academic studies. We report here the first successful umbilical cord blood transplant as treatment of Maroteaux–Lamy syndrome. Bone Marrow Transplantation (2000) 26, 455–458.

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Authors and Affiliations

  1. Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China

    V Lee, CK Li, MMK Shing, KW Chik, H Pong & PMP Yuen

  2. Department of Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China

    CW Lam

  3. Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China

    KS Tsang

  4. Department of Paediatrics, Yan Chai Hospital, Hong Kong SAR, China

    KF Huen

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  1. V Lee
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Lee, V., Li, C., Shing, M. et al. Umbilical cord blood transplantation for Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI). Bone Marrow Transplant 26, 455–458 (2000). https://doi.org/10.1038/sj.bmt.1702528

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