Successful Umbilical Cord Blood Stem Cell Transplantation for
Pelizaeus-Merzbacher Disease
Abstract
Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive
leukodystrophy caused by mutations in the proteolipid protein-1 gene on
the Xq22.2 chromosome and is characterized clinically by nystagmus,
spastic quadriplegia, ataxia and developmental delay. There is no
definitive curative treatment. We report here a successful matched
unrelated umbilical cord blood stem cell transplantation for PMD in a
2-year-old boy. He was conditioned with Busulfan, Cyclophosphamide and
Rabbit anti-thymoglobulin. MMF and Cyclosporine were used as
graft-vs-host disease prophylaxis. His neutrophil engrafted on day+29
and platelets on day+33. It lead to disease stabilisation and
improvement in development of the child with PMD.