{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T20:48:17Z","timestamp":1778705297953,"version":"3.51.4"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T00:00:00Z","timestamp":1721174400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T00:00:00Z","timestamp":1721174400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Wilson disease (WD) is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in <jats:italic>ATP7B<\/jats:italic>. Clinical manifestations primarily involve liver and nervous system lesions, with rarely observed hematologic manifestations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>In the present case, a patient with WD presented with thrombocytopenia, giant platelets, and D\u00f6hle-like cytoplasmic inclusions in the leukocytes. Initially, the May\u2013Hegglin anomaly was considered; however, whole-exome sequencing did not reveal any mutation in the <jats:italic>MYH9<\/jats:italic> gene but a heterozygous mutation was found in (C.2804\u00a0C\u2009&gt;\u2009T, p.T935M) in the <jats:italic>ATP7B<\/jats:italic> gene. After two years, the patient developed tremors in his hands, lower limb stiffness, and foreign body sensation in the eyes. Additionally, Kayser\u2013Fleischer rings in the corneal limbus were detected by slit-lamp examination. Copper metabolism test indicated a slight decrease in serum ceruloplasmin. Transmission electron microscopy revealed that the inclusion bodies of leukocytes were swollen mitochondria. Mass spectrometry analysis showed that the copper levels were almost 20-fold higher in the leukocytes of the patient than in those of the control group. Based on the Leipzig scoring system, a diagnosis of WD was confirmed. Zinc sulfate treatment ameliorated the patient\u2019s symptoms and enhanced platelet, serum ceruloplasmin, and albumin levels.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In conclusion, this case represents the first documented instance of WD presenting as thrombocytopenia, giant platelets, and D\u00f6hle-like cytoplasmic inclusions in the leukocytes. Excessive cellular copper accumulation likely underlies these findings; however, understanding precise mechanisms warrants further investigation.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-024-01960-1","type":"journal-article","created":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T10:01:59Z","timestamp":1721210519000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review"],"prefix":"10.1186","volume":"17","author":[{"given":"Shaoze","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianling","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxuan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongxing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meidie","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongqing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhanqin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,17]]},"reference":[{"key":"1960_CR1","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/S1474-4422(14)70190-5","volume":"14","author":"O Bandmann","year":"2015","unstructured":"Bandmann O, Weiss KH, Kaler SG. 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