{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T21:26:38Z","timestamp":1793741198834,"version":"4.6.1"},"reference-count":13,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:00:00Z","timestamp":1779321600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:p>Gaucher disease is a rare lysosomal storage disease caused by mutations in the GBA gene, resulting in the accumulation of glucosylceramides in macrophages. The perinatal\/lethal form, also including fetal Gaucher disease, is a distinct and severe variant, usually presenting with non-immune hydrops fetalis, hepatosplenomegaly, ichthyosiform changes, and typical \u201cGaucher cells\u201d seen on histology in various organs. Four cases of fetal\/perinatal Gaucher disease are presented, 1 genetically confirmed and 3 histologically diagnosed, with a description of the prenatal findings and the pathological features at autopsy. In all 4 cases, hydrops was detected prenatally after the 24th week of gestation, leading to termination of pregnancy. Hepatosplenomegaly was confirmed at autopsy in 3 cases. Dysmorphic features included thick lips and eclabium, upturned nose, thick antitragus, and micropenis in the 2 male fetuses. Histologically, characteristic Gaucher cells were found in multiple organs, while in 2 cases brain involvement was reported. In conclusion, fetal Gaucher disease shows distinct pathological characteristics. Some facial features and micropenis are highlighted for the first time, whereas ichthyosiform body skin changes described in neonates and infants are not typically seen in the fetus. Brain involvement is variable. Further reporting of genotype-phenotype correlations is necessary in cases of fetal\/perinatal Gaucher disease.<\/jats:p>","DOI":"10.1177\/10935266261450254","type":"journal-article","created":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T12:53:49Z","timestamp":1779368029000},"page":"654-660","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Fetal\/Perinatal Lethal Gaucher Disease: A Case Series"],"prefix":"10.1177","volume":"29","author":[{"given":"Anastasia E","family":"Konstantinidou","sequence":"first","affiliation":[{"name":"1st Department of Pathology, Unit of Paediatric-Perinatal Pathology, Medical School, National and Kapodistrian University of Athens, Greece"},{"name":"Department of Pathology, Aretaieion University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9591-0389","authenticated-orcid":false,"given":"Ioannis","family":"Ketsekioulafis","sequence":"additional","affiliation":[{"name":"Department of Forensic Medicine and Toxicology, Medical School, National and Kapodistrian University of Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Florentin","sequence":"additional","affiliation":[{"name":"AlfaLab Genetics and Genomic Center, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,5,21]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1080\/15227950500405296"},{"key":"e_1_3_2_3_2","volume-title":"GeneReviews\u00ae","author":"Hughes DA","unstructured":"Hughes DA, Pastores GM. Gaucher disease. In: Adam MP, Bick S, Mirzaa GM, et al., eds. GeneReviews\u00ae [Internet]. University of Washington, Seattle; 1993-2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1269\/"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20117"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00040-X"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-010-0247-2"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020441"},{"key":"e_1_3_2_8_2","first-page":"110","article-title":"Perinatal-lethal Gaucher disease presenting as hydrops fetalis","volume":"21","author":"BenHamida E","year":"2015","unstructured":"BenHamida E, Ayadi I, Ouertani I, et al. Perinatal-lethal Gaucher disease presenting as hydrops fetalis. Pan Afr Med J. 2015;21:110.","journal-title":"Pan Afr Med J"},{"key":"e_1_3_2_9_2","volume-title":"Wigglesworth and Don Singer: Textbook of Fetal and Perinatal Pathology","author":"Jonathan S.","year":"1998","unstructured":"Jonathan S. Wigglesworth and Don Singer: Textbook of Fetal and Perinatal Pathology. 2nd ed. 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