{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T14:12:50Z","timestamp":1788876770663,"version":"build-2803163510"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T00:00:00Z","timestamp":1788825600000},"content-version":"vor","delay-in-days":76,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Wilson\u2019s disease is an autosomal recessive disorder of copper metabolism that primarily affects the liver and brain, with onset typically in early adulthood. Pediatric presentations are rare, and the atypical presentation of psychiatric symptoms can delay the diagnosis process in low-resource settings. Epidemiological data on the disease, particularly in Syria, remain scarce. Early diagnosis is necessary to prevent irreversible hepatic and neurologic damage.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>An eight-year-old Syrian child presented with psychiatric and neurologic symptoms, including increased aggressiveness, learning difficulties, dysarthria, drooling while eating and drinking, and difficulty speaking, followed by weight loss and jaundice. A dental examination revealed no temporomandibular joint deformities, prompting neurological consultation. The neurological examination revealed difficulty walking with limb tremors and speech impairment. Laboratory findings showed slightly elevated transaminases and total iron-binding capacity with low serum iron, indicating hepatic dysfunction. Serum ceruloplasmin was markedly reduced (3.1\u00a0mg\/dl), and 24-h urinary copper excretion was elevated. MRI of the brain revealed increased T2-weighted signal intensity in the caudate and lentiform nuclei. An ophthalmologic exam found Kayser\u2013Fleischer rings at the corneal limbus. Esophagogastroduodenoscopy showed distal esophageal varices, and an abdominal ultrasound showed hepatomegaly and splenomegaly. The patient was treated with copper chelator penicillamine, dietary copper restriction, and physical therapy. Follow-up showed marked clinical improvement with recovery of motor function, improved speech, and resolution of jaundice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This instance underscores the necessity of evaluating Wilson\u2019s illness in pediatric patients exhibiting early behavioral and neurological signs, particularly emphasizing that prominent psychiatric manifestations may precede hepatic signs even in young children. Early administration of chelation therapy can lead to excellent outcomes even in resource-limited settings. Atypical presentations require increased awareness that may facilitate earlier detection and the prevention of irreversible organ damage.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13256-026-06220-7","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:25:27Z","timestamp":1782300327000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pediatric Wilson disease with early psychiatric manifestations: a case report"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8612-5639","authenticated-orcid":false,"given":"Firas","family":"Shammas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Hamama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sawsan","family":"Ismail","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Naef","family":"Alhailony","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raneem","family":"Al Dali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solaiman Naser","family":"Solaiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,24]]},"reference":[{"key":"6220_CR1","doi-asserted-by":"publisher","DOI":"10.1002\/cld.349","author":"ML Schilsky","year":"2014","unstructured":"Schilsky ML. Wilson disease: clinical manifestations, diagnosis, and treatment. Clinical Liver Disease. 2014. https:\/\/doi.org\/10.1002\/cld.349.","journal-title":"Clinical Liver Disease"},{"key":"6220_CR2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.22261","author":"EA Roberts","year":"2008","unstructured":"Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008. https:\/\/doi.org\/10.1002\/hep.22261.","journal-title":"Hepatology"},{"key":"6220_CR3","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10215097","author":"B Kasztelan-Szczerbinska","year":"2021","unstructured":"Kasztelan-Szczerbinska B, Cichoz-Lach H. Wilson\u2019s disease: an update on the diagnostic workup and management. J Clin Med. 2021. https:\/\/doi.org\/10.3390\/jcm10215097.","journal-title":"J Clin Med"},{"key":"6220_CR4","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-018-0018-3","volume-title":"Nat","author":"A Cz\u0142onkowska","year":"2018","unstructured":"Cz\u0142onkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Wilson disease, et al. Nat. Rev: Dis. Primers. Nature Publishing Group; 2018. https:\/\/doi.org\/10.1038\/s41572-018-0018-3."},{"key":"6220_CR5","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/B978-0-444-63625-6.00014-8","volume-title":"Handb Clin Neurol","author":"P Ferenci","year":"2017","unstructured":"Ferenci P. Diagnosis of Wilson disease. In: Handb Clin Neurol. Elsevier B.V.; 2017. p. 171\u201380. https:\/\/doi.org\/10.1016\/B978-0-444-63625-6.00014-8."},{"key":"6220_CR6","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.42655","volume-title":"A Challenging Case of Wilson\u2019s Disease","author":"R Jo\u00e3o Soares","year":"2023","unstructured":"Jo\u00e3o Soares R, Monteiro N, Machado J, Silva Marques J, Nunes A. A Challenging Case of Wilson\u2019s Disease. Cureus: Springer Science and Business Media LLC; 2023. https:\/\/doi.org\/10.7759\/cureus.42655."},{"issue":"7","key":"6220_CR7","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1136\/jnnp.54.7.624","volume":"54","author":"S Hitoshi","year":"1991","unstructured":"Hitoshi S, Iwata M, Yoshikawa K. Mid-brain pathology of Wilson\u2019s disease: MRI analysis of three cases. Neurosurg Psychiatry. 1991;54(7):624\u20136.","journal-title":"Neurosurg Psychiatry"},{"key":"6220_CR8","doi-asserted-by":"publisher","DOI":"10.3350\/cmh.2020.0022","author":"E Ashkenazi","year":"2013","unstructured":"Ashkenazi E, Kovalev Y, Zuckerman E. evaluation and treatment of esophageal varices in the cirrhotic patient. Reviews. 2013. https:\/\/doi.org\/10.3350\/cmh.2020.0022.","journal-title":"Reviews"},{"key":"6220_CR9","doi-asserted-by":"publisher","DOI":"10.1590\/1806-9282.62.03.243","author":"FT Aires","year":"2016","unstructured":"Aires FT, Ramos PT, Bernardo WM. Efficacy of lactulose in the prophylaxis of hepatic encephalopathy in cirrhotic patients presenting gastrointestinal bleeding. Rev Assoc Med Bras. 2016. https:\/\/doi.org\/10.1590\/1806-9282.62.03.243.","journal-title":"Rev Assoc Med Bras"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-026-06220-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-06220-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-06220-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T14:04:14Z","timestamp":1788876254000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13256-026-06220-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,24]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["6220"],"URL":"https:\/\/doi.org\/10.1186\/s13256-026-06220-7","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,24]]},"assertion":[{"value":"7 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Ethical approval was not required for this single case report, in accordance with the institutional\/national policy.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient's legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as potential conflicts of interest.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"525"}}