Introduction
Pelizaeus-Merzbacher
Disease (PMD) is a rare X-linked recessive leukodystrophy caused by
mutations in the proteolipid protein-1 (PLP1) gene on the Xq22.2
chromosome (1,2). The primary biological deficiency in affected patients
with PMD is the failure of oligodendrocytes to properly myelinate axons,
resulting in axonal degeneration and neurological dysfunction (1). More
than 50% of cases are caused by duplication of a genomic region,
including the entire PLP1 gene (2,3). PMD is characterized clinically by
nystagmus, spastic quadriplegia, ataxia, and developmental delay (1).
There is no definitive curative treatment. We report here a successful
matched unrelated umbilical cord blood stem cell transplantation (UCBT)
for PMD in a 2-year-old boy.