{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T06:00:08Z","timestamp":1790316008426,"version":"4.1.0"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:00:00Z","timestamp":1790294400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Neonatal lysosomal storage disorders may overlap clinically with congenital infection. We report a term infant initially evaluated for congenital rubella because of petechiae, thrombocytopenia, hepatosplenomegaly, cholestasis, bilateral non-pass results on newborn hearing screening, cardiac abnormalities, and ocular findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A term male neonate presented with petechiae, gastrointestinal bleeding, thrombocytopenia, hepatosplenomegaly, cholestasis, liver dysfunction, bilateral non-pass newborn hearing-screening results, cardiac abnormalities, and ocular findings after repeated maternal rubella immunoglobulin M and G positivity during pregnancy. Infant rubella immunoglobulin G was positive and immunoglobulin M was negative, but rubella-specific reverse-transcription polymerase chain reaction and adequate longitudinal serology were not performed. Dried-blood-spot (DBS) glucocerebrosidase activity was 0.96\u2005\u03bcmol\/L\/h (reference interval, 1.19\u201322.23), only modestly reduced, whereas glucosylsphingosine (lyso-Gb1) was 963.66\u2005ng\/mL (reference value, &amp;lt;17.41), more than 55-fold the upper limit. Neither result was confirmed in an independently collected specimen, and no leukocyte or fibroblast enzyme assay was performed. Long-range polymerase chain reaction and sequencing reported\n                      <jats:italic>GBA1<\/jats:italic>\n                      c.1265_1319del as apparently homozygous, but parental Sanger testing detected the variant in the father and not the mother. Biallelic\n                      <jats:italic>GBA1<\/jats:italic>\n                      involvement therefore remained unresolved. Alternative neonatal lysosomal disorders were not systematically excluded. The findings were consistent with probable neonatal-onset Gaucher disease but did not establish a definitive diagnosis. The infant was discharged after 21 days and was reported to have died at 6 months; the intervening course and certified cause of death were unavailable.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case illustrates diagnostic uncertainty in neonates with overlapping infectious, haematological, inflammatory, and lysosomal features. Markedly elevated lyso-Gb1 provided the strongest Gaucher-directed biochemical evidence, whereas the modestly reduced single dried-blood-spot enzyme result and unresolved GBA1 segregation precluded definitive confirmation. Relevant Gaucher-like and hepatosplenic lysosomal disorders were not systematically excluded. The findings were consistent with probable neonatal-onset Gaucher disease; congenital rubella remained unconfirmed and could not be fully excluded, and the disease subtype, allelic configuration, inheritance mechanism, and recurrence risk remained undetermined.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1877098","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T05:33:16Z","timestamp":1790314396000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: From suspected congenital rubella to a lysosomal storage disorder\u2014diagnostic challenges in a neonate with findings strongly suggestive of Gaucher disease"],"prefix":"10.3389","volume":"14","author":[{"given":"Ruifeng","family":"Tian","sequence":"first","affiliation":[{"name":"Department of Neonatology, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiwen","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1007\/s13312-018-1249-9","article-title":"Gaucher Disease Task Force. 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