{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T14:50:42Z","timestamp":1770994242371,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,11,4]],"date-time":"2009-11-04T00:00:00Z","timestamp":1257292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hurler\u2013Scheie syndrome is caused by alpha\u2010l\u2010iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood\u2013brain barrier, the therapy of choice for the more severe Hurler syndrome is haematopoietic stem cell transplantation (HCT). In the more attenuated Scheie syndrome, neurological impairment is less severe; therefore, ERT may be appropriate to treat these patients. Information on long\u2010term outcome in Scheie patients undergoing ERT is scarce. We report a 38\u2010year\u2010old female Scheie patient who has been on ERT for 8 years. While non\u2010neurological symptoms improved, she developed paresthesias in her hands and feet and progressive pain in her legs. Somatosensory evoked potentials were abnormal, suggesting dysfunction of the dorsal funiculus and lemniscus medialis. After 6 years of ERT, a spinal MRI showed dural thickening at the upper cervical spine. These soft\u2010tissue deposits are presumably due to the accumulation of mucopolysaccharides. Intramedullary hyperintensities at the level of C1\/2 revealed cervical myelopathy. An MRI before the start of ERT had shown milder spinal lesions. Cystic lesions in the white matter of the centrum semiovale due to dilated Virchow\u2013Robin spaces were essentially unchanged compared with the MRI scan before ERT. Decompression of the spinal cord resulted in clinical improvement. In an adult patient with Scheie syndrome, ERT failed to prevent progression of cervical myelopathy. Clinical significance of cerebral changes is unclear. Whether early HCT or intrathecal ERT could have prevented these lesions remains speculative.<\/jats:p>","DOI":"10.1007\/s10545-009-1265-y","type":"journal-article","created":{"date-parts":[[2009,11,5]],"date-time":"2009-11-05T07:52:54Z","timestamp":1257407574000},"page":"321-325","source":"Crossref","is-referenced-by-count":16,"title":["Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression"],"prefix":"10.1002","volume":"32","author":[{"given":"S.","family":"Illsinger","sequence":"first","affiliation":[{"name":"Department of Paediatric Kidney, Liver and Metabolic Diseases Hannover Medical School Carl\u2010Neuberg Str. 1 Hannover 30625 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"L\u00fccke","sequence":"additional","affiliation":[{"name":"Department of Paediatric Kidney, Liver and Metabolic Diseases Hannover Medical School Carl\u2010Neuberg Str. 1 Hannover 30625 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Department of Paediatric Kidney, Liver and Metabolic Diseases Hannover Medical School Carl\u2010Neuberg Str. 1 Hannover 30625 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Mengel","sequence":"additional","affiliation":[{"name":"Center for Lysosomal Storage Diseases Children's Hospital of Johannes Gutenberg University of Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"M\u00fcller\u2010Forell","sequence":"additional","affiliation":[{"name":"Institute of Neuroradiology Johannes Gutenberg University of Mainz Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Donnerstag","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Neuroradiology Hannover Medical School Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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