Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler Syndrome

J Pediatr. 2005 Jul;147(1):106-8. doi: 10.1016/j.jpeds.2005.03.005.

Abstract

Hurler syndrome is a lysosomal storage disease resulting in fatal cardiac or neurologic sequelae unless alpha-iduronidase production is reconstituted with hematopoietic stem cell transplantation. We report on a 4-year, 6-month-old boy with mixed donor chimerism and low enzyme levels but a normal neurodevelopmental trajectory.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Transplantation*
  • Developmental Disabilities / prevention & control*
  • Humans
  • Iduronidase / blood*
  • Infant
  • Male
  • Mucopolysaccharidosis I / therapy*
  • Transplantation Chimera*
  • Treatment Outcome

Substances

  • Iduronidase