{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:43:17Z","timestamp":1756384997980,"version":"3.40.4"},"reference-count":8,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,4,23]]},"abstract":"<jats:p>Hunter syndrome is an X linked recessive mucopolysaccharidosis (type II) caused by the deficiency of iduronate 2-sulfatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulfate. The intracellular and extracellular accumulation of these substances lead to multisystemic organ abnormality. It is a rare syndrome with a very low prevalence of 1.3:100\u2005000 male live births. Usual presentation is in early childhood although milder variants have been documented to present at a later age. We present a rare case of Hunter syndrome in a 24-year-old male patient who presented with joint contractures and recent onset hoarseness of voice. X-rays were suggestive of dysostosis multiplex. Clinical diagnosis of Hunter syndrome was confirmed by enzyme assay and further by mutational analysis.<\/jats:p>","DOI":"10.1136\/bcr-2015-209305","type":"journal-article","created":{"date-parts":[[2015,5,14]],"date-time":"2015-05-14T14:54:52Z","timestamp":1431615292000},"page":"bcr2015209305","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Hunter syndrome with late age of presentation: clinical description of a case and review of the literature"],"prefix":"10.1136","volume":"2015","author":[{"given":"Ashish","family":"Gupta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anusha","family":"Uttarilli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katta M","family":"Girisha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,5,14]]},"reference":[{"key":"2025042706192369000_2015.may14_1.bcr2015209305.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0112-z"},{"key":"2025042706192369000_2015.may14_1.bcr2015209305.2","first-page":"104","article-title":"A rare disease in two brothers","volume":"10","author":"Hunter","year":"1917","journal-title":"Proc R Soc Med"},{"key":"2025042706192369000_2015.may14_1.bcr2015209305.3","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318211a7e1"},{"key":"2025042706192369000_2015.may14_1.bcr2015209305.4","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0635-4"},{"key":"2025042706192369000_2015.may14_1.bcr2015209305.5","doi-asserted-by":"publisher","DOI":"10.4103\/0976-9668.95984"},{"key":"2025042706192369000_2015.may14_1.bcr2015209305.6","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-4-154"},{"key":"2025042706192369000_2015.may14_1.bcr2015209305.7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470608"},{"key":"2025042706192369000_2015.may14_1.bcr2015209305.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00213.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2015-209305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T13:19:33Z","timestamp":1745759973000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2015-209305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,14]]},"references-count":8,"alternative-id":["10.1136\/bcr-2015-209305"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2015-209305","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2015,5,14]]}}}