Bone marrow transplantation in Hunter syndrome.

Hunter syndrome (mucopolysaccharidosis II) is a rare X-linked disorder of mucopolysaccharide metabolism that typically progresses to severe mental retardation and death by 18 years of age. A child with Hunter syndrome received an allogeneic bone marrow transplantation from an unaffected human leukocyte antigen-identical sibling at the age of 29 months without complications. Despite full and sustained engraftment now at 70 months after transplantation, the patient's neurocognitive abilities have continued to deteriorate. In this case, replacement of defective marrow-derived macrophages by bone marrow transplantation was not effective in preventing the neurologic progression of the disease in a child with the severe phenotype of Hunter syndrome.