{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T07:04:07Z","timestamp":1762067047933,"version":"build-2065373602"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T00:00:00Z","timestamp":1663286400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T00:00:00Z","timestamp":1663286400000},"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>The chronic visceral subtype of acid sphingomyelinase deficiency, commonly known as Niemann Pick disease type B (NPDB), is a relatively rare autosomal recessive genetic disorder that is caused by mutations in the <jats:italic>SMPD1<\/jats:italic> gene. NPDB with sea-blue histiocytes\u00a0(SBH)\u00a0clinically mimics Budd-Chiari syndrome (BCS), as it lacks\u00a0specific clinical characteristics. This makes its diagnosis difficult.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Here, we report a case of NPDB with SBH\u00a0that was misdiagnosed as BCS for three years. A 20-year-old female with abdominal distension, hepatosplenomegaly, and haematological anomalies was initially diagnosed with BCS based on her imaging finding of a\u00a0thin hepatic vein and rapid blood flow at the confluence of the hepatic vein and inferior vena cava. Her bone marrow cytology\u00a0found sea-blue histiocytes. Liver biopsy showed foamy cytoplasm in\u00a0hepatocytes surrounded by numerous Kupffer cells. Sequencing analysis of the <jats:italic>SMPD1<\/jats:italic> gene led to the finding of two missense mutations in the heterozygous state: C.829\u00a0T\u2009&gt;\u2009C (p.Trp277Arg) in exon 2 (novel) and c.1805G\u2009&gt;\u2009A (p.Arg602His) in exon 6 (already described). These findings established the diagnosis of NPDB.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The patient presented with hepatosplenomegaly, haematological anomalies, and dyslipidaemia. Thus, NPDB should be considered following the exclusion of related diseases. The diagnosis of NPDB was suspected by clinical symptoms and routine laboratory tests and was confirmed by liver biopsy and gene sequencing. The novel mutation c.829\u00a0T\u2009&gt;\u2009C in exon 2 of the <jats:italic>SMPD1<\/jats:italic> gene has never been reported and needs to be further investigated.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01353-2","type":"journal-article","created":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T21:02:44Z","timestamp":1663362164000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome"],"prefix":"10.1186","volume":"15","author":[{"given":"Zhe-wen","family":"Zhou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shou-hao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng-an","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-hao","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tian-chen","family":"Hui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiao-qiao","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3911-6150","authenticated-orcid":false,"given":"Hong-ying","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,9,16]]},"reference":[{"issue":"1\u20132","key":"1353_CR1","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.ymgme.2016.12.008","volume":"120","author":"EH Schuchman","year":"2017","unstructured":"Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease. Mol Genet Metab. 2017;120(1\u20132):27\u201333.","journal-title":"Mol Genet Metab"},{"issue":"3","key":"1353_CR2","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1016\/j.ymgme.2012.06.015","volume":"107","author":"CE Hollak","year":"2012","unstructured":"Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, et al. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab. 2012;107(3):526\u201333.","journal-title":"Mol Genet Metab"},{"issue":"1","key":"1353_CR3","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1186\/s13023-021-01842-0","volume":"16","author":"MM McGovern","year":"2021","unstructured":"McGovern MM, Wasserstein MP, Bembi B, Giugliani R, Mengel KE, Vanier MT, et al. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation. Orphanet J Rare Dis. 2021;16(1):212.","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"1353_CR4","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1038\/gim.2017.7","volume":"19","author":"MM McGovern","year":"2017","unstructured":"McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genet Med. 2017;19(9):967\u201374.","journal-title":"Genet Med"},{"key":"1353_CR5","doi-asserted-by":"crossref","unstructured":"Janssen HL, Garcia-Pagan JC, Elias E, Mentha G, Hadengue A, Valla DC, European Group for the Study of Vascular Disorders of the Liver. Budd-Chiari syndrome: a review by an expert panel. 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Genet Med. 2022. https:\/\/doi.org\/10.1016\/j.gim.2022.03.021.","journal-title":"Genet Med"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01353-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-022-01353-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01353-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T21:06:46Z","timestamp":1663362406000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-022-01353-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,16]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["1353"],"URL":"https:\/\/doi.org\/10.1186\/s12920-022-01353-2","relation":{},"ISSN":["1755-8794"],"issn-type":[{"type":"electronic","value":"1755-8794"}],"subject":[],"published":{"date-parts":[[2022,9,16]]},"assertion":[{"value":"17 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 September 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 September 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study is approved by the Zhejiang Provincial People\u2019s Hospital Ethics Committee. Written informed consent was obtained from the patient and her parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of a case report was obtained from the patient and her parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"196"}}