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Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation

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Abstract

Wolman disease is a rapidly fatal lysosomal storage disease caused by the complete absence of lysosomal acid lipase activity. We report the cure of an infant with Wolman disease following transplantation of unrelated HLA-mismatched umbilical cord blood-derived stem cells. Umbilical cord blood was chosen as the stem-cell source because of its immediate availability and reduced tendency to cause graft-versus-host disease. The transplantation resulted in restoration of normal acid lipase levels before the onset of permanent end-organ damage. Four years after transplantation, the patient is thriving and has normal levels of acid lipase in peripheral blood cells. To our knowledge, this is the first report of a successful unrelated cord blood transplant in a patient with Wolman disease. Umbilical cord stem cells transplantation can restore acid lipase levels in Wolman disease, and if performed early, can cure the disease.

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Abbreviations

WD:

wolman disease

BMT:

bone marrow transplant

UCB:

umbilical cord blood

GVHD:

graft versus host disease

LDL:

low-density lipoproteins

MRI:

magnetic resonance imaging

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Authors and Affiliations

  1. Bone Marrow Transplantation Unit, Department of Pediatric Hematology/Oncology, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

    Jerry Stein & Isaac Yaniv

  2. Department of Pediatrics B, Schneider Children’s Medical Center of Israel, Petach Tikva, 49202, Israel

    Ben Zion Garty

  3. Department of Clinical Nutrition, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

    Yael Dror

  4. Department of Oncology Rabin Medical Center Petach Tikva with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Eyal Fenig

  5. Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel

    Marsha Zeigler

Authors
  1. Jerry Stein
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  2. Ben Zion Garty
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  3. Yael Dror
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  4. Eyal Fenig
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  5. Marsha Zeigler
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  6. Isaac Yaniv
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Corresponding author

Correspondence to Ben Zion Garty.

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Stein, J., Zion Garty, B., Dror, Y. et al. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr 166, 663–666 (2007). https://doi.org/10.1007/s00431-006-0298-6

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  • DOI: https://doi.org/10.1007/s00431-006-0298-6

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