{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T05:00:35Z","timestamp":1775970035744,"version":"3.50.1"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,4,5]],"date-time":"2021-04-05T00:00:00Z","timestamp":1617580800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,4,5]],"date-time":"2021-04-05T00:00:00Z","timestamp":1617580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>A 20-month-old Asian boy with normal growth presented with genu valgum, kyphosis, and pectus carinatum, with no neurological symptoms. No other symptoms suggestive of mucopolysaccharidoses, for example joint contracture and peculiar facies, were present.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>As part of our differential diagnosis we found elevated urine glycosaminoglycans, which triggered further investigation. Detailed examination showed flattening of the ribs, kyphoscoliosis and ovalization of the thoracolumbar vertebral body, strikingly short metacarpals, and very slight cardiac regurgitation. <jats:italic>N<\/jats:italic>-Acetylgalactosamine-6-sulfatase levels in the blood and dermal fibroblasts were very low, thus confirming diagnosis of Morquio A within 2 months of presentation. The patient was placed on elosulfase alfa enzyme replacement therapy and followed for 3 years.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This case exemplifies the importance of considering mucopolysaccharidoses as part of the initial differential diagnosis of pediatric patients with skeletal deformities; urine glycosaminoglycan levels and a blood enzyme mucopolysaccharidoses panel are simple screening tests that could lead to early definitive diagnosis.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-02737-1","type":"journal-article","created":{"date-parts":[[2021,4,4]],"date-time":"2021-04-04T23:03:15Z","timestamp":1617577395000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"Kento","family":"Yamauchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2398-5928","authenticated-orcid":false,"given":"Daishi","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miho","family":"Wada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Ida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,4,5]]},"reference":[{"key":"2737_CR1","unstructured":"Research Group for Lysosomal Storage Disease (Including Fabry Disease). Lysosomal storage disease and peroxisomal disease diagnosis manual. Health and Labour Sciences Research Grants for Research on Intractable Diseases Policy. 2015. http:\/\/www.japan-lsd-mhlw.jp\/doc\/lsd_pd_diagnosis-manual.pdf. Accessed 26 Sept 2019."},{"key":"2737_CR2","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1002\/ajmg.a.36833","volume":"167A","author":"CJ Hendriksz","year":"2015","unstructured":"Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A:11\u201325.","journal-title":"Am J Med Genet A."},{"key":"2737_CR3","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1007\/s10545-007-0529-7","volume":"30","author":"AM Monta\u00f1o","year":"2007","unstructured":"Monta\u00f1o AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30:165\u201374.","journal-title":"J Inherit Metab Dis."},{"key":"2737_CR4","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.ymgme.2013.04.002","volume":"110","author":"CJ Hendriksz","year":"2013","unstructured":"Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2013;110:54\u201364.","journal-title":"Mol Genet Metab."},{"key":"2737_CR5","doi-asserted-by":"publisher","first-page":"931","DOI":"10.2174\/138920111795542615","volume":"12","author":"S Tomatsu","year":"2011","unstructured":"Tomatsu S, Monta\u00f1o AM, Oikawa H, Smith M, Barrera L, Chinen Y, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12:931\u201345.","journal-title":"Curr Pharm Biotechnol."},{"key":"2737_CR6","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.ymgme.2013.01.021","volume":"109","author":"P Harmatz","year":"2013","unstructured":"Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, et al. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109:54\u201361.","journal-title":"Mol Genet Metab."},{"key":"2737_CR7","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/j.ymgme.2017.05.016","volume":"121","author":"SA Khan","year":"2017","unstructured":"Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017;121:227\u201340.","journal-title":"Mol Genet Metab."},{"key":"2737_CR8","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1297\/cpe.25.71","volume":"25","author":"T Isojima","year":"2016","unstructured":"Isojima T, Kato N, Ito Y, Kanzaki S, Murata M. Growth standard charts for Japanese children with mean and standard deviation (SD) values based on the year 2000 national survey. Clin Pediatr Endocrinol. 2016;25:71\u20136.","journal-title":"Clin Pediatr Endocrinol."},{"key":"2737_CR9","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/s10545-013-9587-1","volume":"36","author":"TC Wood","year":"2013","unstructured":"Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, et al. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis. 2013;36:293\u2013307.","journal-title":"J Inherit Metab Dis."},{"key":"2737_CR10","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.1002\/ajmg.a.32281","volume":"146A","author":"AM Monta\u00f1o","year":"2008","unstructured":"Monta\u00f1o AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008;146A:1286\u201395.","journal-title":"Am J Med Genet A."},{"key":"2737_CR11","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1007\/s004390050641","volume":"101","author":"J Nelson","year":"1997","unstructured":"Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997;101:355\u20138.","journal-title":"Hum Genet."},{"key":"2737_CR12","first-page":"787","volume-title":"Pediatric surgery","author":"R Shamberger","year":"1998","unstructured":"Shamberger R. Congenital chest wall deformities. In: O\u2019Neill J, Rowe MI, Grosfield JL, editors. Pediatric surgery. 5th ed. St. Louis, MO: Mosby; 1998. p. 787.","edition":"5"},{"key":"2737_CR13","first-page":"129","volume":"32","author":"L Morquio","year":"1929","unstructured":"Morquio L. Sur une forme de dystrophie osseuse familiale. Arch Med Enfants. 1929;32:129\u201340.","journal-title":"Arch Med Enfants."},{"key":"2737_CR14","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.ymgmr.2017.08.007","volume":"13","author":"M Furujo","year":"2017","unstructured":"Furujo M, Kosuga M, Okuyama T. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-year follow up. Mol Genet Metab Rep. 2017;13:69\u201375.","journal-title":"Mol Genet Metab Rep."}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02737-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13256-021-02737-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02737-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,4]],"date-time":"2021-04-04T23:08:35Z","timestamp":1617577715000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-02737-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,5]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2737"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-02737-1","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,5]]},"assertion":[{"value":"30 May 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 February 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardians for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"150"}}