{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:28:34Z","timestamp":1760909314034,"version":"3.37.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:00:00Z","timestamp":1728345600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:00:00Z","timestamp":1728345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Rheumatol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones\u2019 diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is typically inherited in an autosomal dominant pattern. Patients with CED often present with symptoms such as chronic bone pain, muscle weakness, fatigue, and difficulty walking.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report a 30-month-old boy who presented with gait abnormality. Initially, toxic synovitis was considered, and non-steroidal anti-inflammatory (NSA\u0130) treatment was administered. The patient did not respond to NSA\u0130 treatment. Direct radiographs showed diaphyseal thickening, especially in the long bones. Radiologically, CED was suspected, and clinical exome sequencing identified a TGFB-1: c1121C\u2009&gt;\u2009G (Pro374Arg) heterozygous mutation, which was interpreted as a possible pathogenic variant for CED. A clinical, radiologic, and genetic diagnosis of CED was made.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Due to its rarity and variable clinical presentation, the diagnosis of CED can be challenging and often requires a high index of suspicion. Early and accurate diagnosis is crucial for managing symptoms and improving patients\u2019 quality of life.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12969-024-01016-9","type":"journal-article","created":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T10:18:57Z","timestamp":1728382737000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient"],"prefix":"10.1186","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0093-6058","authenticated-orcid":false,"given":"Ay\u015fenur","family":"Alkaya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adalet El\u00e7in","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"Ba\u011flan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Semanur","family":"\u00d6zdel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,10,8]]},"reference":[{"key":"1016_CR1","unstructured":"OMIM, #131300. Camurati-Engelmann Disease."},{"issue":"5","key":"1016_CR2","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1007\/s00223-019-00532-1","volume":"104","author":"W Van Hul","year":"2019","unstructured":"Van Hul W, Boudin E, Vanhoenacker FM, Mortier G. Camurati-Engelmann Disease. Calcif Tissue Int. 2019;104(5):554\u201360.","journal-title":"Calcif Tissue Int"},{"key":"1016_CR3","unstructured":"Wallace SE, Wilcox WR, Camurati-Engelmann D. 2004 Jun 25 [updated 2023 Aug 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews \u00ae. Seattle (WA): University of Washington, Seattle; 1993\u20132024."},{"key":"1016_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.2005.033522","volume":"43","author":"K Janssens","year":"2006","unstructured":"Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, et al. Camurati-Engelmann disease: review of the clinical, radiological and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006;43:1\u201311.","journal-title":"J Med Genet"},{"issue":"129A3","key":"1016_CR5","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1002\/ajmg.a.30148","volume":"1","author":"SE Wallace","year":"2004","unstructured":"Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004;1(129A3):235\u201347.","journal-title":"Am J Med Genet A"},{"key":"1016_CR6","doi-asserted-by":"publisher","first-page":"882144","DOI":"10.3389\/fendo.2022.882144","volume":"13","author":"L Cui","year":"2022","unstructured":"Cui L, Li Q, Guan W, Yu W, Li X, Xia W, et al. Improvement of Bone Health and initiation of Puberty Development in Camurati-Engelmann Disease with glucocorticoid and Losartan Treatment: a Case Report and Review of Literature. Front Endocrinol (Lausanne). 2022;13:882144.","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"11","key":"1016_CR7","doi-asserted-by":"publisher","first-page":"3978","DOI":"10.1210\/jc.2014-2025","volume":"99","author":"A Ayyavoo","year":"2014","unstructured":"Ayyavoo A, Derraik JG, Cutfield WS, Hofman PL. Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan. J Clin Endocrinol Metab. 2014;99(11):3978\u201382.","journal-title":"J Clin Endocrinol Metab"},{"key":"1016_CR8","doi-asserted-by":"crossref","unstructured":"Moreira S, Cunha B, Jesus NP, Santos L. Pain improvement in Camurati-Engelmann disease after anti-TNF\u03b1 therapy. BMJ Case Rep. 2017;bcr2017221760.","DOI":"10.1136\/bcr-2017-221760"},{"issue":"1","key":"1016_CR9","doi-asserted-by":"publisher","first-page":"e169","DOI":"10.1097\/PG9.0000000000000169","volume":"3","author":"AS Sami","year":"2022","unstructured":"Sami AS, Rosh JR. Dual biologic therapy in an adolescent with camurati-Engelmann Disease and Crohn Disease. JPGN Rep. 2022;3(1):e169.","journal-title":"JPGN Rep"},{"issue":"3","key":"1016_CR10","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/j.crad.2023.12.004","volume":"79","author":"M Saffarzadeh","year":"2024","unstructured":"Saffarzadeh M, Haydar S, Chan D, Andrews G, Ouellette H, Mallinson P, et al. A clinico-radiological review of chronic non-bacterial osteomyelitis in paediatrics, adolescents, and adults: demystifying a forgotten differential. Clin Radiol. 2024;79(3):170\u20138.","journal-title":"Clin Radiol"}],"container-title":["Pediatric Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-024-01016-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12969-024-01016-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-024-01016-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T10:25:48Z","timestamp":1728383148000},"score":1,"resource":{"primary":{"URL":"https:\/\/ped-rheum.biomedcentral.com\/articles\/10.1186\/s12969-024-01016-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,8]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["1016"],"URL":"https:\/\/doi.org\/10.1186\/s12969-024-01016-9","relation":{},"ISSN":["1546-0096"],"issn-type":[{"type":"electronic","value":"1546-0096"}],"subject":[],"published":{"date-parts":[[2024,10,8]]},"assertion":[{"value":"5 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 August 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 October 2024","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":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Declared that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"89"}}