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.
Umbilical Cord Blood Transplantation to Treat Pelizaeus-Merzbacher Disease in 2 Young Boys
FINANCIAL DISCLOSURE: Dr Kurtzberg is the medical director of the CORD:USE Cord Blood Bank and the director of the Carolinas Cord Blood Bank. She holds a consultancy position as the National Marrow Donor Program Medical Advisor Co-Chair, part of the Cord Blood Working Group and has a grant through the Health Resources and Services Administration Cord Blood Public Banking Contract. The other authors have indicated they have no financial relationships relevant to this article to disclose.
- Views Icon Views
- Share Icon Share
- Search Site
Jessica Wishnew, Kristin Page, Susan Wood, Leo Galvin, James Provenzale, Maria Escolar, Kathryn Gustafson, Joanne Kurtzberg; Umbilical Cord Blood Transplantation to Treat Pelizaeus-Merzbacher Disease in 2 Young Boys. Pediatrics November 2014; 134 (5): e1451–e1457. 10.1542/peds.2013-3604
Download citation file: