{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T20:42:05Z","timestamp":1788381725461,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,9,11]],"date-time":"2017-09-11T00:00:00Z","timestamp":1505088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To characterize carpal tunnel syndrome (<jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content>) in patients with mucopolysaccharidosis I (<jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Data were included for patients with <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I who had either nerve conduction examination that included a diagnosis of <jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> or who had <jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> release surgery. Although this represented a subset of patients with <jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> in the <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I Registry, the criteria were considered the most objective for data analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>As of March 2016, 994 patients were categorized with either severe (Hurler syndrome) or attenuated (Hurler\u2013Scheie or Scheie syndromes) <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I. Among these, 291 had a <jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> diagnosis based on abnormal nerve conduction (<jats:italic>n<\/jats:italic>=54) or release surgery (<jats:italic>n<\/jats:italic>=237). Median ages (minimum, maximum) at first <jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> diagnosis were 5 years 2 months (10mo, 16y 2mo) and 9y 11mo (1y 8mo, 44y 1mo) for patients with severe and attenuated <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I respectively. Most patients had their first <jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> diagnosis after <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I diagnosis (94%) and treatment (hematopoietic stem cell transplant and\/or enzyme replacement therapy) (74%). For 11% of patients with attenuated disease, <jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> diagnosis preceded <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I diagnosis by a mean of 7 years 6 months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> is a rare complication in pediatric patients and should alert medical care providers to the potential diagnosis of <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I. Significant delays exist between diagnosis of <jats:styled-content style=\"fixed-case\">CTS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">MPS<\/jats:styled-content> I for patients with attenuated disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>There are significant delays in diagnosing carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I).<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Enzyme replacement therapy or hematopoietic stem cell transplant do not prevent the development of CTS.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Testing for CTS in patients with MPS I is recommended to prevent irreparable damage.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>CTS in pediatric patients should alert physicians to potential diagnosis of MPS 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