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Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period. The most prevalent etiologies are infections, anemia, and neoplasms.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A pregnant woman at 26.5 gestational weeks was referred to our center for fetal ultrasound findings of hepatosplenomegaly, distinct facial features, and liver, spleen and thymus echogenic spots. Whole exome sequencing after amniocentesis identified two likely pathogenic <jats:italic>IDUA<\/jats:italic> gene variants (in <jats:italic>trans<\/jats:italic>), raising suspicion of a diagnosis of MPS I. MPS I was confirmed by the deficiency of \u03b1-L-iduronidase activity in amniotic cells. A medical pregnancy termination was carried out due to the severe prognosis. After termination of pregnancy, external examination of the fetus confirmed hepatosplenomegaly and coarse dysmorphic features.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Lysosomal storage diseases (LSD) are a rare cause of prenatal hepatosplenomegaly, but this has not been described in MPS I according to our literature search. The genetic variants identified in this case prompted early diagnosis through genome-wide studies. This rare presentation of MPS I highlights the expanding role of genomic analyses in diagnosing conditions during pregnancy.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12884-024-07115-5","type":"journal-article","created":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T09:42:33Z","timestamp":1735897353000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report"],"prefix":"10.1186","volume":"25","author":[{"given":"Maxime","family":"Agranier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Demurger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christele","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome","family":"Fromageot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie Cabaret","family":"Dufour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Launay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magalie","family":"Gournay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Lef\u00e8vre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Pettazzoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Rollier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,3]]},"reference":[{"key":"7115_CR1","unstructured":"Clarke LA, Mucopolysaccharidosis Type I. 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In addition, non-opposition consent for the publication of the report and photographs was obtained in accordance with French legislation. The Consultative Committee on Data Processing for Research in the Health Field (CCTIRS) and the French National Commission for Data Processing and Individual Liberties (CNIL) approved the consent forms.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"In accordance with the principles outlined in the Helsinki Declaration, written consent for genetic testing was obtained from the parents of the fetus included in this study. In addition, non-opposition consent for the publication of the report and photographs was obtained in accordance with French legislation. The Consultative Committee on Data Processing for Research in the Health Field (CCTIRS) and the French National Commission for Data Processing and Individual Liberties (CNIL) approved the consent forms.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"3"}}