Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation

Eur J Pediatr. 2007 Jul;166(7):663-6. doi: 10.1007/s00431-006-0298-6. Epub 2006 Oct 11.

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.

Publication types

  • Case Reports

MeSH terms

  • Brain / anatomy & histology
  • Child Development
  • Child, Preschool
  • Cord Blood Stem Cell Transplantation*
  • Female
  • Graft vs Host Disease / prevention & control
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Transplantation, Homologous
  • Wolman Disease / therapy*