{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:57:15Z","timestamp":1777726635297,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>\n                    Patients with Wilson\u2019s disease, an autosomal recessive disorder caused by\n                    <jats:italic toggle=\"yes\">ATP7B<\/jats:italic>\n                    mutations, present with hepatic and neurological symptoms, including tremors, chorea, personality changes, and rare manifestations such as neuropathy, autonomic dysfunction, headache, and epilepsy. This report describes the case of a 14-year-old man born to consanguineous parents who presented with focal seizures and oromandibular dystonia. A neurological exam revealed left upper limb hypotonia. An electroencephalogram showed right hemisphere epileptiform activity, and magnetic resonance imaging indicated bilateral basal ganglia hyperintensities. An ophthalmological exam revealed an incomplete Kayser\u2013Fleischer ring. Laboratory tests confirmed Wilson\u2019s disease with low serum ceruloplasmin (3\u2009mg\/dL) and elevated urinary copper excretion (1226\u2009mcg\/24\u2009h) levels. Treatment included penicillamine (250\u2009mg\/day) and zinc (50\u2009mg bi-daily), along with clonazepam for seizures. Routine follow-ups were recommended. This case highlights the importance of recognizing neurological presentations in patients with Wilson\u2019s disease for timely diagnosis and management.\n                  <\/jats:p>","DOI":"10.1177\/03000605251328574","type":"journal-article","created":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T15:44:47Z","timestamp":1744386287000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Isolated neurological symptoms of Wilson\u2019s disease manifesting as focal epileptic seizures without hepatic involvement: Insights from a case report"],"prefix":"10.1177","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-0424-2037","authenticated-orcid":false,"given":"Ayham","family":"Qatza","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Hama University, Hama, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0893-3989","authenticated-orcid":false,"given":"Ahmad","family":"Almohamed","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hama University, Hama, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rima","family":"Alassaad","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, National Hama Hospital, Hama, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9640-7406","authenticated-orcid":false,"given":"Saja","family":"Karaja","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hama University, Hama, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghina","family":"Hamsho","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Aleppo University, Aleppo, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghiath","family":"Alassad","sequence":"additional","affiliation":[{"name":"Neurology Department, Alwatani Hospital, Hama, Syrian Arab Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,11]]},"reference":[{"key":"e_1_3_8_2_2","first-page":"1476","article-title":"Wilson\u2019s disease with neurological presentation, without hepatic involvement in two siblings","volume":"7","author":"Kumar MK","year":"2013","unstructured":"Kumar MK, Kumar V, Singh PK. Wilson\u2019s disease with neurological presentation, without hepatic involvement in two siblings. J Clin Diagn Res 2013; 7: 1476\u20131478.","journal-title":"J Clin Diagn Res"},{"key":"e_1_3_8_3_2","first-page":"e11509","article-title":"Neurological manifestations of Wilson\u2019s disease: pathophysiology and localization of each component","volume":"12","author":"Ortiz JF","year":"2020","unstructured":"Ortiz JF, Morillo Cox \u00c1, Tambo W, et\u00a0al. Neurological manifestations of Wilson\u2019s disease: pathophysiology and localization of each component. Cureus 2020; 12: e11509.","journal-title":"Cureus"},{"key":"e_1_3_8_4_2","first-page":"e18650","article-title":"Wilson\u2019s disease: diagnosis in novel way","volume":"13","author":"Kannauje PK","year":"2021","unstructured":"Kannauje PK, Pandit VR, Wasnik PN, et\u00a0al. Wilson\u2019s disease: diagnosis in novel way. Cureus 2021; 13: e18650.","journal-title":"Cureus"},{"key":"e_1_3_8_5_2","first-page":"69","article-title":"Clinical characteristics and comparison of different prognostic scores in Wilson\u2019s disease","volume":"12","author":"Majid Z","year":"2022","unstructured":"Majid Z, Abrar G, Laeeq SM, et\u00a0al. Clinical characteristics and comparison of different prognostic scores in Wilson\u2019s disease. Euroasian J Hepatogastroenterol 2022; 12: 69\u201372.","journal-title":"Euroasian J Hepatogastroenterol"},{"key":"e_1_3_8_6_2","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.3390\/diagnostics13091554","article-title":"Blood based biomarkers of central nervous system involvement in Wilson\u2019s disease","volume":"13","author":"Antos A","year":"2023","unstructured":"Antos A, Cz\u0142onkowska A, Bembenek J, et\u00a0al. Blood based biomarkers of central nervous system involvement in Wilson\u2019s disease. Diagnostics (Basel) 2023; 13: 1554.","journal-title":"Diagnostics (Basel)"},{"key":"e_1_3_8_7_2","first-page":"595","article-title":"Wilson\u2019s disease\u2013early onset and lessons from a pediatric cohort in India","volume":"37","author":"Kalra V","year":"2000","unstructured":"Kalra V, Khurana D, Mittal R. Wilson\u2019s disease\u2013early onset and lessons from a pediatric cohort in India. Indian Pediatr 2000; 37: 595\u2013601.","journal-title":"Indian Pediatr"},{"key":"e_1_3_8_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2011.11.007"},{"key":"e_1_3_8_9_2","first-page":"72","volume-title":"Diseases in Children","author":"Sokol RJ.","year":"1994","unstructured":"Sokol RJ. Wilson\u2019s Disease and Indian childhood cirrhosis. In: Suchy, Fredrick J (eds) Diseases in Children. Vol. 747. St Louis: Mosby Year Books Inc, 1994, pp. 72."},{"key":"e_1_3_8_10_2","volume-title":"Wilson Disease [Updated 2023 Aug 7]. In: StatPearls [Internet]","author":"Immergluck J","year":"2024","unstructured":"Immergluck J, Anilkumar AW. Wilson Disease [Updated 2023 Aug 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2024."},{"key":"e_1_3_8_11_2","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/B978-0-444-63625-6.00014-8","article-title":"Diagnosis of Wilson disease","volume":"142","author":"Ferenci P.","year":"2017","unstructured":"Ferenci P. Diagnosis of Wilson disease. Handb Clin Neurol 2017; 142: 171\u2013180.","journal-title":"Handb Clin Neurol"},{"key":"e_1_3_8_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63625-6.00010-0"},{"key":"e_1_3_8_13_2","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1093\/brain\/111.5.1139","article-title":"Wilson\u2019s disease and epilepsy","volume":"111","author":"Dening TR","year":"1988","unstructured":"Dening TR, Berrios GE, Walshe JM. Wilson\u2019s disease and epilepsy. 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