{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:54:45Z","timestamp":1775804085931,"version":"3.50.1"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Backgrounds<\/jats:title>\n                    <jats:p>Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism characterized by impaired hepatic copper excretion and progressive multisystem copper accumulation. While hepatic and neuropsychiatric manifestations predominate, arthralgia as an initial presentation is uncommon. We report a child with WD who presented initially with joint pain.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A ten-year-old patient experienced recurrent joint pain, predominantly in the lower limbs, and physical examination revealed tenderness in the right ankle joint and hepatomegaly. Laboratory investigations demonstrated liver dysfunction, including elevated alanine aminotransferase, aspartate aminotransferase, and total bilirubin levels. Further evaluation confirmed the diagnosis of WD based on the presence of Kayser\u2013Fleischer rings on ophthalmologic examination, decreased serum ceruloplasmin levels, increased 24-hour urinary copper excretion, and identification of a homozygous mutation in the ATP7B gene. Treatment with penicillamine and zinc supplementation was initiated, after which the child experienced gradual improvement in joint symptoms along with normalization of liver biochemical parameters.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>WD should be considered in the differential diagnosis of children presenting with unexplained arthralgia, particularly when accompanied by abnormal liver biochemical findings.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1781752","type":"journal-article","created":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T05:59:32Z","timestamp":1775800772000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Wilson's disease presenting with arthralgia: a case report"],"prefix":"10.3389","volume":"14","author":[{"given":"Yiyuan","family":"Li","sequence":"first","affiliation":[{"name":"Key Laboratory of Women and Children Diseases, Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Wen","sequence":"additional","affiliation":[{"name":"Key Laboratory of Women and Children Diseases, Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.jhep.2011.11.007","article-title":"EASL Clinical Practice Guidelines: Wilson\u2019s disease","volume":"56","year":"2012","journal-title":"J Hepatol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/B978-0-444-63625-6.00013-6","article-title":"Other organ involvement and clinical aspects of Wilson disease","volume":"142","author":"Dziezyc","year":"2017","journal-title":"Handb Clin Neurol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1136\/gut.2005.087262","article-title":"Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort 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implications","volume":"75","author":"Prashanth","year":"2004","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"B11","doi-asserted-by":"publisher","first-page":"1324","DOI":"10.1016\/j.arcped.2017.09.005","article-title":"Unusual osseous presentation of wilson disease in a child","volume":"24","author":"Almes","year":"2017","journal-title":"Arch Pediatrie"},{"key":"B12","doi-asserted-by":"publisher","first-page":"33","DOI":"10.11005\/jbm.2015.22.1.33","article-title":"Fracture in a young male patient leading to the diagnosis of Wilson's disease: a case report","volume":"22","author":"Shin","year":"2015","journal-title":"J Bone Metab"},{"key":"B13","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1016\/j.jhep.2024.11.007","volume":"82","year":"2025","journal-title":"J Hepatol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1034\/j.1600-0676.2003.00824.x","article-title":"Diagnosis and phenotypic classification of wilson disease","volume":"23","author":"Ferenci","year":"2003","journal-title":"Liver Int"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1781752\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T05:59:32Z","timestamp":1775800772000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1781752\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,10]]},"references-count":14,"alternative-id":["10.3389\/fped.2026.1781752"],"URL":"https:\/\/doi.org\/10.3389\/fped.2026.1781752","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,10]]},"article-number":"1781752"}}