{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T13:10:04Z","timestamp":1745759404011,"version":"3.40.4"},"reference-count":17,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,7,12]]},"abstract":"<jats:p>Mucopolysaccharidosis IIIB (MPS IIIB) is an autosomal recessive lysosomal storage disorder. In comparison to Hurler syndrome (MPS I) and Hunter syndrome (MPS II), characteristic facial and physical features tend to be milder and progression of neurological symptoms may initially be slower. Obvious neurological and behavioural symptoms may not appear until age 2\u20136\u2009years, but once they begin, progression is relentless, leading to death by the early 20s. Although there is currently no known cure for MPS IIIB, enzyme replacement clinical trials are showing hope for delay in the progression of symptoms. Early diagnosis is therefore necessary before neurological symptoms have progressed. In our case, MPS IIIB was diagnosed at an early age because recurrent wheezing and otitis media in conjunction with hepatomegaly were recognised as more than trivial findings. A thorough examination and a definitive proactive decision to perform a liver biopsy resulted in early diagnosis of a rare disease.<\/jats:p>","DOI":"10.1136\/bcr-2018-224412","type":"journal-article","created":{"date-parts":[[2018,7,26]],"date-time":"2018-07-26T04:35:33Z","timestamp":1532579733000},"page":"bcr-2018-224412","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7260-731X","authenticated-orcid":false,"given":"Toshifumi","family":"Yodoshi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas L","family":"Hurt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,7,25]]},"reference":[{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80279-6"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0838-5"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.3","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200070"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.4","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0258-4"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.5","first-page":"320","article-title":"Diagnosis of mucopolysaccharidosis type IIIB","volume":"37","author":"Chuang","year":"1996","journal-title":"Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.6","unstructured":"BioMarin Presents Interim Data of Phase 1\/2 Study of BMN 250 for Treatment of Sanfilippo B Syndrome (MPS IIIB) at 13th International Congress of Inborn Errors of Metabolism (ICIEM). 2017. http:\/\/investors.biomarin.com\/2017-09-06-BioMarin-Presents-Interim-Data-of-Phase-1-2-Study-of-BMN-250-for-Treatment-of-Sanfilippo-B-Syndrome-MPS-IIIB-at-13th-International-Congress-of-Inborn-Errors-of-Metabolism-ICIEM-2017 (accessed 28 Dec 2017)."},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.7","unstructured":"Spranger J , et al . Mucopolysaccharidoses. In: Kliegman RM , Stanton BF , Schor NF , eds. Nelson textbook of Pediatrics. 19th edn. Philadelphia: Saunders, 2011:512\u20134."},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.8","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9555-1"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.9","doi-asserted-by":"crossref","unstructured":"Federico MJ . Wheeze. In: Bajaj L , Hambidge SJ , Kerby G , eds. Berman\u2019s pediatric decision making. 5th edn. Philadelphia: Mosby, 2011:410\u20132.","DOI":"10.1016\/B978-0-323-05405-8.00101-7"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2010.10.005"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.11","doi-asserted-by":"crossref","unstructured":"Boamah LM , Balistreri WF . Manifestations of liver disease. In: Kliegman RM , Stanton BF , Schor NF , eds. et alNelson textbook of Pediatrics. 19th edn. Philadelphia: Saunders, 2011:1374\u20135.","DOI":"10.1016\/B978-1-4377-0755-7.00347-X"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.12","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1111\/apa.12169","article-title":"Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit\/hyperactivity disorder or autism spectrum disorder","volume":"102","author":"Wijburg","year":"2013","journal-title":"Acta Paediatr"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.13","unstructured":"Ghadially FN . Lysosomes in mucopolysaccharidoses. In: Ghadially FN , ed. Ultrastructural pathology of the cell and matrix, fourth edn. Oxford;Butterworth-Heinemann, 1997:748\u20139."},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.14","doi-asserted-by":"crossref","unstructured":"Burrow TA , Grabowski GA . Lysosomal storage disease. In: Sokol RJ , Balistreri WF , eds. Liver disease in children. fourth edn. Cambridge: Cambridge University press, 2014:546\u201366.","DOI":"10.1017\/CBO9781139012102.033"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.15","first-page":"282","article-title":"Sanfilippo disease: Buhot cells in the cerebrospinal fluid","volume":"22","author":"Garcia-Riego","year":"1978","journal-title":"Acta Cytol"},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.16","unstructured":"Shire announces top-line results for phase ii\/iii clinical trial in children with hunter syndrome and cognitive impairment. https:\/\/globenewswire.com\/news-release\/2017\/12\/19\/1266050\/0\/en\/Shire-Announces-Top-Line-Results-for-Phase-II-III-Clinical-Trial-in-Children-with-Hunter-Syndrome-and-Cognitive-Impairment.html (accessed 30 Apr 2018)."},{"key":"2025042705404446000_2018.jul25_1.bcr-2018-224412.17","unstructured":"Abeona therapeutics reports top-line data from phase 1\/2 gene therapy trial in MPS IIIA. https:\/\/globenewswire.com\/news-release\/2018\/02\/08\/1336416\/0\/en\/Abeona-Therapeutics-Reports-Top-Line-Data-from-Phase-1-2-Gene-Therapy-Trial-in-MPS-IIIA.html (accessed 30 Apr 2018)."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-224412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T12:40:58Z","timestamp":1745757658000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-224412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,25]]},"references-count":17,"alternative-id":["10.1136\/bcr-2018-224412"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-224412","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,7,25]]}}}