{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T15:57:09Z","timestamp":1786636629081,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T00:00:00Z","timestamp":1774396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T00:00:00Z","timestamp":1774396800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15\u2010year\u2010old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema. Initial workup showed low\u2010normal ceruloplasmin, hypergammaglobulinemia, positive antinuclear antibody (ANA) and anti\u2010smooth muscle antibody, and liver biopsy compatible with autoimmune hepatitis (AIH) (simplified AIH score\u2009=\u20096). Lack of response to prednisone therapy for probable AIH prompted further testing. Moreover, 24\u2010h urine copper was 1285\u2009\u00b5g (normal 15\u201360\u2009\u00b5g\/24\u2009h), ceruloplasmin was 9\u2009mg\/dL (initially 18\u2009mg\/dL), Kayser\u2013Fleischer rings were appreciated, and elevated liver copper quantification. ATP7B gene testing revealed two heterozygous pathogenic variations in two different genes. Initiation of copper chelation therapy led to the resolution of symptoms and normalization of aminotransferases in 8 weeks. This case underscores the need for timely WD evaluation in patients with atypical presentations.<\/jats:p>","DOI":"10.1002\/jpr3.70148","type":"journal-article","created":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T11:17:52Z","timestamp":1774437472000},"page":"383-386","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent\u2014Case report"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8543-1363","authenticated-orcid":false,"given":"Tierra L. R.","family":"Mosher","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Baylor College of Medicine Texas Children's Hospital Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hicks","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology, Baylor College of Medicine Texas Children's Hospital Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9890-5518","authenticated-orcid":false,"given":"Krupa R.","family":"Mysore","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Baylor College of Medicine Texas Children's Hospital Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2013.04.006"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-018-0018-3"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63625-6.00012-4"},{"key":"e_1_2_8_5_1","volume-title":"Wilson Disease","author":"Immergluck J","year":"2025"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.22322"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.32801"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.4103\/sjg.sjg_501_21"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.4254\/wjh.v4.i1.5"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.18773\/austprescr.2021.022"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.70148","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jpr3.70148","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.70148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T14:59:14Z","timestamp":1786633154000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpr3.70148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,25]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/jpr3.70148"],"URL":"https:\/\/doi.org\/10.1002\/jpr3.70148","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"value":"2691-171X","type":"print"},{"value":"2691-171X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,25]]},"assertion":[{"value":"2025-03-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}