title: 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.affiliation: Bone Marrow Transplantation Unit, Department of Pediatric Hematology/Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Jerry
authors.initials: J
authors.lastname: Stein
authors.forename: Ben Zion
authors.initials: BZ
authors.lastname: Garty
authors.forename: Yael
authors.initials: Y
authors.lastname: Dror
authors.forename: Eyal
authors.initials: E
authors.lastname: Fenig
authors.forename: Marsha
authors.initials: M
authors.lastname: Zeigler
authors.forename: Isaac
authors.initials: I
authors.lastname: Yaniv
mesh_terms: D001921:Brain / Q000033:anatomy & histology; D002657:Child Development; D002675:Child, Preschool; D036101:Cord Blood Stem Cell Transplantation; D005260:Female; D006086:Graft vs Host Disease / Q000517:prevention & control; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D014184:Transplantation, Homologous; D015223:Wolman Disease / Q000628:therapy*