Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT)

  1. Gunilla Malm1,
  2. Britt Gustafsson1,
  3. Gunilla Berglund2,
  4. Maria Lindström3,
  5. Karin Naess1,
  6. Birgit Borgström1,
  7. Ulrika Von Döbeln4,
  8. Olle Ringdén5

Article first published online: 29 APR 2008

DOI: 10.1111/j.1651-2227.2008.00811.x

Issue

Acta Paediatrica

Acta Paediatrica

Volume 97, Issue 8, pages 1108–1112, August 2008

Additional Information

How to Cite

Malm, G., Gustafsson, B., Berglund, G., Lindström, M., Naess, K., Borgström, B., Von Döbeln, U. and Ringdén, O. (2008), Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT). Acta Paediatrica, 97: 1108–1112. doi: 10.1111/j.1651-2227.2008.00811.x

Author Information

  1. 1

    Department of Clinical Science, Intervention and Technology, Division of Paediatrics, Karolinska Institutet, Huddinge

  2. 2

    Department of Psychology, Karolinska University Hospital, Huddinge

  3. 3

    Paediatric Cardiology Unit, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Solna

  4. 4

    Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Huddinge

  5. 5

    Clinical Immunology and Centre for Allogeneic Stem Cell Transplantation, Huddinge, Karolinska Institutet, Stockholm, Sweden

*Correspondence Gunilla Malm, MD, PhD, Department of Paediatrics, Karolinska Institutet, Karolinska University Hospital, Huddinge S-14186, Stockholm, Sweden. Tel: +46–8-58587305 | Fax: +46–8-58581410 | Email: gunilla.malm@karolinska.se

Publication History

  1. Issue published online: 8 JUL 2008
  2. Article first published online: 29 APR 2008
  3. Received 21 December 2007; revised 21 January 2008; accepted 10 March 2008.

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Keywords:

  • Bone marrow transplantation;
  • Developmental outcome;
  • Mucopolysaccharidosis

Abstract

Aim: To follow-up six children with severe mucopolysaccharidosis type IH, Hurler syndrome, who were treated before 24 months of age with haematopoietic stem cell transplantation.

Methods: In Sweden, during the last 10-year period, six consecutive children born with severe mucopolysaccharidoses type IH have been successfully transplanted using matched unrelated donors between the ages of 11 and 24 months (mean age 18 months). Three children received intravenous enzyme replacement therapy once a week, from diagnosis until engraftment of their bone marrow.

Result: Two children developed chimerism and a progressive increase in recipient cells and later received a successful re-transplantation. One to two years after transplantation the children demonstrated some developmental delays in cognitive function. Latterly this was followed by normalization. Orthopaedic operations on the spine and hips and carpal tunnel syndrome were still required following transplantation. Cardiac valve involvement remained progressive in the children.

Conclusion: The outcome of six children in this study confirms that early haematopoietic stem cell transplantation in mucopolysaccharidosis type I, Hurler syndrome, preserves an affected child's mental ability. Consequently, it is essential that clinical recognition and early diagnosis take place, providing an additional challenge to paediatricians treating this condition.

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