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Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression

Bone Marrow Transplantation volume 39, pages 309–310 (2007)Cite this article

The potential of allogeneic hematopoietic stem cell transplantation (HSCT) to ameliorate the natural course of late infantile metachromatic leukodystrophy (MLD) is debated. We here report on the disease progression after a very early HSCT in a pre-symptomatic newborn with late infantile MLD.

MLD is an inherited metabolic disorder caused by the deficiency of the lysosomal enzyme arylsulfatase A (ASA) leading to demyelination of the central and peripheral nervous system.1 In the late-infantile form, onset of symptoms begins between 6 months and 2 years. The disease progresses within a few years to hypotonia, speech abnormalities, loss of mental abilities, blindness, convulsions, paralysis, dementia and finally to death.1

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References

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Acknowledgements

We thank Dr J Huijmans, Dr OP van Diggelen and Dr W Onkenhout and CM Jol-van der Zijde for technical assistance.

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Authors and Affiliations

  1. Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

    R G M Bredius, A C Lankester, M J D van Tol & R M Egeler

  2. Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands,

    L A E M Laan

  3. Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands,

    B J H M Poorthuis

  4. Department of Pediatric Neurology, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands E-mail: R.G.M.Bredius@lumc.nl,

    W F M Arts

Authors
  1. R G M Bredius
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  2. L A E M Laan
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  3. A C Lankester
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  4. B J H M Poorthuis
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  5. M J D van Tol
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  6. R M Egeler
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  7. W F M Arts
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Supplementary Information accompanies the paper on Bone Marrow Transplantation website (http://www.nature.com/bmt)

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Bredius, R., Laan, L., Lankester, A. et al. Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression. Bone Marrow Transplant 39, 309–310 (2007). https://doi.org/10.1038/sj.bmt.1705581

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