title: Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys.
abstract: Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive leukodystrophy caused by mutations in the proteolipid protein 1 gene on the Xq22 chromosome. PMD is a dysmyelinating disorder characterized by variable clinical presentation and course. Symptoms range from mild motor deficits to progressive spasticity and neurologic decline resulting in death at an early age. There is no definitive curative treatment. This report presents the clinical course of 2 young boys with PMD who are the first known patients to receive umbilical cord blood transplantation as a therapeutic intervention to stabilize disease progression. Pretransplantation evaluation revealed that both patients had significant motor deficits as well as delayed cognitive function as compared with age-matched peers. Brain imaging revealed varying degrees of hypomyelination. Both patients received myeloablative chemotherapy followed by an unrelated donor umbilical cord blood infusion, which they tolerated well with no major transplantation-related complications. At 7-years and 1-year posttransplantation, respectively, both boys are making slow neurocognitive improvements and show no evidence of functional decline. Imaging results show stable or improving myelination. Although the results of unrelated donor umbilical cord blood transplantation in these 2 boys with PMD are encouraging, longer-term follow-up will be necessary to assess the effect of this treatment on the variable natural disease course.
authors.affiliation: Pediatric Blood and Marrow Transplant Program, jshnoo@gmail.com.
authors.forename: Jessica
authors.initials: J
authors.lastname: Wishnew
authors.affiliation: Pediatric Blood and Marrow Transplant Program.
authors.forename: Kristin
authors.initials: K
authors.lastname: Page
authors.affiliation: Pediatric Blood and Marrow Transplant Program.
authors.forename: Susan
authors.initials: S
authors.lastname: Wood
authors.affiliation: Division of Neuroradiology, and.
authors.forename: Leo
authors.initials: L
authors.lastname: Galvin
authors.affiliation: Division of Neuroradiology, and.
authors.forename: James
authors.initials: J
authors.lastname: Provenzale
authors.affiliation: Program for the Study of Neurodevelopment in Rare Disorders, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
authors.forename: Maria
authors.initials: M
authors.lastname: Escolar
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina; and.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Gustafson
authors.affiliation: Pediatric Blood and Marrow Transplant Program.
authors.forename: Joanne
authors.initials: J
authors.lastname: Kurtzberg
mesh_terms: D002675:Child, Preschool; D036101:Cord Blood Stem Cell Transplantation / Q000379:methods*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis* / Q000628:therapy*; D016896:Treatment Outcome
keywords: Pelizaeus-Merzbacher disease; developmental delay; dysmyelination; hematopoietic stem cell transplantation; hypomyelination; umbilical cord blood transplantation