Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler Syndrome.
case_report · Level V
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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.
Medical subject headings
- Bone Marrow Transplantation
- Developmental Disabilities
- Iduronidase
- Mucopolysaccharidosis I
- Transplantation Chimera