{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T18:08:49Z","timestamp":1767204529164,"version":"build-2238731810"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T00:00:00Z","timestamp":1741910400000},"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:p>\n                    A 22-month-old male infant presented with cyanosis and stridor after a trivial fall and then developed acute respiratory distress. The respiratory status of the patient progressed rapidly to severe acute respiratory distress syndrome. Additional findings of hypersplenism prompted a comprehensive multidisciplinary approach and consideration of an inborn error of metabolism. Rapid whole genome sequence showed a compound heterozygote mutation in the\n                    <jats:italic>GBA1<\/jats:italic>\n                    gene involving a maternally inherited known pathogenic variant, p.L483P, and a paternally inherited novel likely pathogenic variant, p.P358l. The diagnosis of Gaucher disease was confirmed with low leukocyte acid \u03b2-glucosidase activity and the patient received recombinant macrophage-targeted enzyme replacement therapy. The patient eventually recovered, but subsequent work-up demonstrated severe bulbar dysfunction with evidence of aspiration. Two months after discharge, the patient arrived at the hospital in a condition of cardiac arrest after a suspected aspiration event associated with hemoptysis. This case illustrates a previously undescribed presentation of Gaucher disease and a new likely pathogenic genetic variant for Gaucher disease. It highlights the role of a multidisciplinary approach, including rapid whole-genome sequencing, to establish timely diagnosis and provide appropriate therapy for Gaucher disease.\n                  <\/jats:p>","DOI":"10.3389\/fped.2025.1476541","type":"journal-article","created":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T01:14:16Z","timestamp":1741914856000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure"],"prefix":"10.3389","volume":"13","author":[{"given":"Sarah","family":"Householder","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruchit","family":"Nagar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nisarg","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jodi","family":"Forward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean","family":"Bickerton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pramod","family":"Mistry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. Vincent S.","family":"Faustino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,3,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"441","DOI":"10.3390\/ijms18020441","article-title":"A review of Gaucher disease pathophysiology, clinical presentation and treatments","volume":"18","author":"Stirnemann","year":"2017","journal-title":"Int J Mol Sci"},{"key":"B2","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1016\/j.ymgme.2021.06.009","article-title":"Throwing a spotlight on under-recognized manifestations of Gaucher disease: pulmonary involvement, lymphadenopathy and gaucheroma","volume":"133","author":"Ramaswami","year":"2021","journal-title":"Mol Genet Metab"},{"key":"B3","doi-asserted-by":"publisher","first-page":"989","DOI":"10.3390\/diagnostics11060989","article-title":"Cardiac manifestations in a group of Romanian patients with Gaucher disease type 1 (a monocentric study)","volume":"11","author":"Lazea","year":"2021","journal-title":"Diagnostics"},{"key":"B4","doi-asserted-by":"publisher","first-page":"6920","DOI":"10.3390\/jcm11236920","article-title":"Hemostatic abnormalities in Gaucher disease: mechanisms and clinical implications","volume":"11","author":"Linari","year":"2022","journal-title":"J Clin Med"},{"key":"B5","doi-asserted-by":"publisher","first-page":"e55","DOI":"10.1212\/NXG.0000000000000055","article-title":"Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt","volume":"2","author":"Abdelwahab","year":"2016","journal-title":"Neurol Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1182\/blood-2014-09-600270","article-title":"Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation","volume":"125","author":"Nair","year":"2015","journal-title":"Blood"},{"key":"B7","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.ymgme.2016.11.006","article-title":"Gaucher disease: progress and ongoing challenges","volume":"120","author":"Mistry","year":"2017","journal-title":"Mol Genet Metab"},{"key":"B8","doi-asserted-by":"publisher","first-page":"D1210","DOI":"10.1093\/nar\/gkad986","article-title":"COSMIC: a curated database of somatic variants and clinical data for cancer","volume":"52","author":"Sondka","year":"2024","journal-title":"Nucleic Acids Res"},{"key":"B9","first-page":"593","article-title":"Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher\u2019s disease","volume":"53","author":"Buina","year":"2007","journal-title":"Biomed Khim"},{"key":"B10","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.ymgmr.2018.03.010","article-title":"Genetic and clinical characteristics of Filipino patients with Gaucher disease","volume":"15","author":"Chiong","year":"2018","journal-title":"Mol Genet Metab"},{"key":"B11","doi-asserted-by":"publisher","first-page":"10018","DOI":"10.1073\/pnas.1200941109","article-title":"Gaucher disease gene GBA functions in immune regulation","volume":"109","author":"Liu","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B12","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1038\/s41436-018-0129-y","article-title":"The New York pilot newborn screening program for lysosomal storage diseases: report of the first 65,000 infants","volume":"21","author":"Wasserstein","year":"2019","journal-title":"Genet Med"}],"updated-by":[{"DOI":"10.3389\/fped.2025.1651138","type":"corrigendum","label":"Corrigendum","source":"publisher","updated":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000}}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1476541\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T07:56:03Z","timestamp":1754985363000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1476541\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,14]]},"references-count":12,"alternative-id":["10.3389\/fped.2025.1476541"],"URL":"https:\/\/doi.org\/10.3389\/fped.2025.1476541","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,14]]},"article-number":"1476541"}}