{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T22:13:51Z","timestamp":1788473631774,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Objectives: To report two cases of prenatal Niemann\u2013Pick disease type C in siblings, with different prenatal semiology and postnatal outcome.<\/jats:p><jats:p>Case reports: First fetus presented at 22 weeks'gestation with ascites, hepatosplenomegaly, then polyhydramnios. At birth, the infant developed severe cholestasis and died at day 5. His brother presented at 22 weeks'gestation an isolated hepatomegaly with cholestasis at birth showing favourable evolution. In first case, diagnosis of Niemann\u2013Pick disease was confirmed by autopsy findings, biochemical tests on cultured skin fibroblasts and ascites fluid, then by molecular screening of NPC1 gene. Brother's molecular prenatal diagnosis was made at 14 weeks' gestation on cultured trophoblasts.<\/jats:p><jats:p>Conclusion: Prenatal screening of this disease is particularly indicated in case of fetal ascites with hypoferritinaemia. Tests on amniotic or ascites fluid cells allow to characterize the biochemical phenotype, leading to search for molecular abnormalities. Despite the same mutation identified in siblings, disease evolution is variable, which underlines complexity of genetic counselling.<\/jats:p>","DOI":"10.1111\/j.1651-2227.2008.00829.x","type":"journal-article","created":{"date-parts":[[2008,6,12]],"date-time":"2008-06-12T14:13:59Z","timestamp":1213280039000},"page":"1136-1139","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Prenatal revelation of Niemann\u2013Pick disease type C in siblings"],"prefix":"10.1111","volume":"97","author":[{"given":"Rub\u00e9n","family":"Moreno","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Lardennois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Drouin\u2010Garraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Verspyck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Marret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Laquerri\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,7,8]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"3611","volume-title":"The metabolic and molecular bases of inherited disease","author":"Patterson MC","year":"2001"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0384-7"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.64.10_Spec_No.1391"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.3.335-e"},{"key":"e_1_2_5_6_2","first-page":"373","article-title":"Forme respiratoire mortelle de maladie de Niemann\u2010Pick type C","volume":"47","author":"Pin I","year":"1990","journal-title":"Arch Fr Pediatr"},{"issue":"21","key":"e_1_2_5_7_2","first-page":"118","article-title":"Fetal ascites: a rare presentation of Niemann\u2010Pick disease type C","author":"Baumk\u00f6tter J","year":"1998","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_5_8_2","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S0065-3101(24)00037-9","article-title":"Hydrops fetalis: lysosomal storage disorders in extremis","volume":"46","author":"Stone DL","year":"1999","journal-title":"Adv Pediatr"},{"key":"e_1_2_5_9_2","first-page":"103","article-title":"Forme infantile pr\u00e9coce, cholestatique, rapidement mortelle, de la Sphingomy\u00e9linose type C","volume":"34","author":"Guibaud P","year":"1979","journal-title":"P\u00e9diatrie"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/302626"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/320606"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1159\/000263839"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.3004"},{"key":"e_1_2_5_14_2","first-page":"111","article-title":"Prenatal diagnosis of Niemann\u2010Pick type C disease: current strategy from an experience of 37 pregnancies at risk","volume":"51","author":"Vanier MT","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00798-7"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0363-3"}],"container-title":["Acta Paediatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1651-2227.2008.00829.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1651-2227.2008.00829.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T08:51:22Z","timestamp":1709023882000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1651-2227.2008.00829.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,8]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["10.1111\/j.1651-2227.2008.00829.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1651-2227.2008.00829.x","archive":["Portico"],"relation":{},"ISSN":["0803-5253","1651-2227"],"issn-type":[{"value":"0803-5253","type":"print"},{"value":"1651-2227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,8]]},"assertion":[{"value":"2008-07-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}