Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys. Pediatrics 2014 Nov;134(5):e1451-7
Date
10/08/2014Pubmed ID
25287453DOI
10.1542/peds.2013-3604Scopus ID
2-s2.0-84908886823 (requires institutional sign-in at Scopus site) 17 CitationsAbstract
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.
Author List
Wishnew J, Page K, Wood S, Galvin L, Provenzale J, Escolar M, Gustafson K, Kurtzberg JAuthor
Kristin Page MD, MHS, MEd Associate Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Child, PreschoolCord Blood Stem Cell Transplantation
Follow-Up Studies
Humans
Infant
Male
Pelizaeus-Merzbacher Disease
Treatment Outcome
