{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:10:02Z","timestamp":1756307402835,"version":"3.44.0"},"reference-count":6,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Wilson's disease (WD) has varied phenotypic presentations. Here we report the case of a 16-year-old boy who presented with a history of multiple pathological fractures, severe joint deformities, hepatic dysfunction, cognitive decline and limb dystonia. On examination, the patient had pinched out facies, pallor and leukonychia totalis. Bilateral Kayser Fleischer (KF) ring was present. Musculoskeletal examination revealed pectus carinatum, bilateral genu valgus and gun-stock deformity of the left elbow joint. Splenomegaly and moderate ascites were present. Neurological examination revealed mild rigidity and intermittent episodes of dystonic posturing of all four limbs. On this basis a diagnosis of WD with dystonia with cirrhosis of liver with portal hypertension with renal tubular acidosis with renal rickets was thought likely. Investigations confirmed the diagnosis. The patient was started on treatment but he did not improve. He suffered aspiration pneumonia during his hospital stay and succumbed to the illness.<\/jats:p>","DOI":"10.1136\/bcr-2013-008857","type":"journal-article","created":{"date-parts":[[2013,4,10]],"date-time":"2013-04-10T00:21:29Z","timestamp":1365553289000},"page":"bcr2013008857","source":"Crossref","is-referenced-by-count":3,"title":["Pathological fractures as an initial presentation of Wilson's disease"],"prefix":"10.1136","volume":"2013","author":[{"given":"Rajesh","family":"Verma","sequence":"first","affiliation":[{"name":"Department of Neurology, King George Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivek","family":"Junewar","sequence":"additional","affiliation":[{"name":"Department of Neurology, King George Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritesh","family":"Sahu","sequence":"additional","affiliation":[{"name":"Department of Neurology, King George Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,4,9]]},"reference":[{"key":"2025082707340110000_2013.apr09_1.bcr2013008857.1","doi-asserted-by":"crossref","first-page":"528","DOI":"10.4103\/0028-3886.57789","article-title":"Wilson's disease: an Indian perspective","volume":"2013","author":"Taly","year":"2009","journal-title":"Neurol India"},{"key":"2025082707340110000_2013.apr09_1.bcr2013008857.2","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1055\/s-2007-971173","article-title":"Wilson's disease","volume":"2013","author":"Pfeiffer","year":"2007","journal-title":"Semin Neurol"},{"key":"2025082707340110000_2013.apr09_1.bcr2013008857.3","first-page":"34","article-title":"Wilson's disease presenting as resistant rickets","volume":"2013","author":"Goyal","year":"2011","journal-title":"Gastroenterol Res"},{"key":"2025082707340110000_2013.apr09_1.bcr2013008857.4","doi-asserted-by":"crossref","unstructured":"Palkar AV Shrivastava MS Padwal NJ . Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease. BMJ Case Rep. Published 11 Aug 2011. doi:10.1136\/ bcr.04.2011.4121","DOI":"10.1136\/bcr.04.2011.4121"},{"key":"2025082707340110000_2013.apr09_1.bcr2013008857.5","first-page":"149","article-title":"Wilson's disease (a case report)","volume":"2013","author":"Rais","year":"1980","journal-title":"J Postgrad Med"},{"key":"2025082707340110000_2013.apr09_1.bcr2013008857.6","first-page":"277","article-title":"Vitamin D-resistant rickets as presenting feature of Wilson's disease","volume":"2013","author":"Olia","year":"2004","journal-title":"JIACM"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-008857","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:34:11Z","timestamp":1756305251000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-008857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,9]]},"references-count":6,"alternative-id":["10.1136\/bcr-2013-008857"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-008857","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,4,9]]}}}