FOLLOW-UP OF 9 PATIENTS WITH HURLER-SYNDROME AFTER BONE-MARROW TRANSPLANTATION

We report our experience in nine patients with Hurler syndrome (six wi th a severe and three with an intermediate phenotype) who successfully engrafted after bone marrow transplantation. The donor was a human le ukocyte antigen-identical sibling in six cases, the human leukocyte an tigen-identical father in one case, and an unrelated donor in two case s. One patient with Hurler syndrome and an intermediate phenotype rece ived two successive grafts from the same donor. There was a beneficial effect of bone marrow transplantation on visceral features (hepatospl enomegaly, obstruction of the upper airway, and coarse facies); howeve r, dysostosis multiplex worsened. All patients but one required surger y for carpal tunnel syndrome. Visual acuity was low because of corneal clouding, and two patients had glaucoma several years after the graft . Five patients had normal hearing before graft that remained normal, and four had hearing impairment that improved. All patients had learni ng difficulties, but none had severe mental retardation (IQ ranging fr om 75 to 103). The follow-up of patients with severe Hurler syndrome e ngrafted for more than 10 years emphasizes the limits and benefits of bone marrow transplantation.