Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation.

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.

• Authors: Jerry Stein, Ben Zion Garty, Yael Dror, Eyal Fenig, Marsha Zeigler, Isaac Yaniv
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 166 Issue 7 Pg. 663-6 (Jul 2007) ISSN: 0340-6199 [Print] Germany
• PMID: 17033804 (Publication Type: Case Reports, Journal Article)

Topics

• 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)