{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T03:39:41Z","timestamp":1772595581730,"version":"3.50.1"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4432,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Previous reports suggested a therapeutic response of lysosomal storage diseaes such as Hurler syndrome following bone marrow transplantation. However, a clearer understanding of outcome has awaited long\u2010term follow\u2010up. We evaluated prospectively 11 consecutive patients with Hurler syndrome receiving marrow from an HLA\u2010identical sib donor between September 1983\u2013October 1988. Follow\u2010up evaluations included assessment of donor engraftment by restriction fragment polymorphism analysis, determination of leukocyte \u03b1\u2010L\u2010iduronidase level, Measurement of lumbar cerebrospinal fluid (CSF) pressure, computerized tomography (CT) of the brain, and psychometric testing. In this series there was survival rate of 9\/11 (82%) with all survivors showing complete (7 patients) or partial (2 patients) donor engraftment. Prospective longitudinal evaluation of the 9 surviving children, now 3.8\u20138.9 years posttransplantation (median 5.5) demonstrated persistence of previously deficient leukocyte \u03b1\u2010L\u2010iduronidase at levels reflecting the donor genotype and degree of dono engraftment. Urinary glycosaminoglycan excretion declined to near\u2010normal within 5 months of donor engraftment. Prior to treatment, 7 of 8 children studied were found to have occult intracranial hypertension (lumbar CSF pressurse &lt; 20 cm CSF); however, all surviving children attained normal or near\u2010normal pressure within 18 months of donor engraftment. Long\u2010term follow\u2010up CT imaging of the brain did not show progressive volume loss (cerebral atrophy) after donor engraftment. Of 9 survivors, 4 children having a developmental quotient (DQ, Mental Development Index on Bayley Scales of Infant Development) above 80 prior to transplantation subsequently maintained IQ scores above this level. However, 5 patients with lower pretransplant DQ scores now have significant cognitive deficits and attention deficit hyperactivity disorder. Progressive brain damage resulting from communicating hydrocephalus may be prevented by successful engraftment. Early transplantation of children with Hurler syndrome who have normal intelligence is likely to have the clearest benefit becaue long\u2010term intellectual outcome will be limited by brain damage which has occurred prior to treatment. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460222","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:50:25Z","timestamp":1118508625000},"page":"209-218","source":"Crossref","is-referenced-by-count":160,"title":["Long\u2010term outcome of Hurler syndrome following bone marrow transplantation"],"prefix":"10.1002","volume":"46","author":[{"given":"Chester B.","family":"Whitley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumar G.","family":"Belani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pi\u2010Nian","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. 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