{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T12:08:41Z","timestamp":1771675721455,"version":"3.50.1"},"reference-count":7,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,7,12]]},"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:p>A female adolescent presented with a 9\u2009month history of progressive involuntary movements, initially manifesting as finger tremors and evolving into flinging motions of the extremities, resulting in an inability to walk over the last 4 months. Concurrently, she developed dysarthria. Neurologically, she exhibited normal power, rigidity and brisk deep tendon reflexes, with a downgoing plantar reflex. Contrast-enhanced MRI revealed hyperintensity in bilateral caudate lobes, basal ganglia and pons, indicative of Wilson\u2019s disease. Liver function tests and ultrasound were normal while Kayser\u2013Fleischer rings were confirmed by slit lamp examination. Serum ceruloplasmin was low, 24-hour urine copper was elevated (125.5 mcg) and whole exome sequencing identified a heterozygous ATP7B mutation, confirming the diagnosis. Isolated neurological involvement without hepatic involvement is an extremely rare presentation and needs clinical expertise to delineate Wilson\u2019s disease as a possible aetiology.<\/jats:p>","DOI":"10.1136\/bcr-2023-259598","type":"journal-article","created":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T12:51:44Z","timestamp":1722257504000},"page":"e259598","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Neurological Wilson\u2019s disease without hepatic involvement in an adolescent female"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4581-609X","authenticated-orcid":false,"given":"Naresh","family":"Kumar","sequence":"first","affiliation":[{"name":"Medicine, Maulana Azad Medical College, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2621-6515","authenticated-orcid":false,"given":"Rashmi","family":"Mishra","sequence":"additional","affiliation":[{"name":"Medicine, Maulana Azad Medical College, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anurag","family":"Rohatgi","sequence":"additional","affiliation":[{"name":"Medicine, Maulana Azad Medical College, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arun","family":"Bargali","sequence":"additional","affiliation":[{"name":"Medicine, Maulana Azad Medical College, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,7,29]]},"reference":[{"key":"2025082701273320000_17.7.e259598.1","doi-asserted-by":"crossref","unstructured":"Cz\u0142onkowska A , Litwin T , Dusek P , et al . Wilson disease. Nat Rev Dis Primers 2018;4. doi:10.1038\/s41572-018-0018-3","DOI":"10.1038\/s41572-018-0018-3"},{"key":"2025082701273320000_17.7.e259598.2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70190-5"},{"key":"2025082701273320000_17.7.e259598.3","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.jceh.2018.08.009","article-title":"Wilson\u2019s disease: clinical practice guidelines of the indian national association for study of the liver, the indian society of pediatric gastroenterology, hepatology and nutrition, and the movement disorders society of india","volume":"9","author":"Nagral","year":"2019","journal-title":"J Clin Exp Hepatol"},{"key":"2025082701273320000_17.7.e259598.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2011.11.007"},{"key":"2025082701273320000_17.7.e259598.5","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2021-246296","article-title":"Wilson\u2019s disease: neuropsychiatric presentation and delayed diagnosis","volume":"15","author":"Deme","year":"2022","journal-title":"BMJ Case Rep"},{"key":"2025082701273320000_17.7.e259598.6","doi-asserted-by":"crossref","unstructured":"Verma R , Bhandari A , Tiwari N , et al . Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease. BMJ Case Rep 2013. doi:10.1136\/bcr-2013-010415","DOI":"10.1136\/bcr-2013-010415"},{"key":"2025082701273320000_17.7.e259598.7","first-page":"1476","article-title":"Wilson\u2019s disease with neurological presentation, without hepatic involvement in two siblings","volume":"7","author":"Kumar","year":"2013","journal-title":"J Clin Diagn Res"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259598","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:27:44Z","timestamp":1756283264000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259598"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":7,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,7,29]]},"published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1136\/bcr-2023-259598"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259598","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7]]}}}