{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T04:46:44Z","timestamp":1766983604285,"version":"3.40.5"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T00:00:00Z","timestamp":1680480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease is the most common of the lysosomal storage diseases. It presents a wide phenotypic continuum, in which one may identify the classically described phenotypes, including type 1 form with visceral involvement, type 2 acute neuropathic early\u2010infantile form, and type 3 subacute neuronopathic form. At the most severe end there is the perinatal form with onset in utero or during the neonatal period. The very few reported cases of neonatal onset Gaucher disease presented high and early mortality, due to neurological or visceral involvement, including liver failure. We report our experience treating a patient with the neonatal form of Gaucher disease who presented at birth with thrombocytopenia, hepatosplenomegaly and cholestasis. Despite early enzyme replacement therapy, liver disease was progressive. Liver biopsy showed hepatocellular giant\u2010cell transformation, a nonspecific finding consistent with inflammation. The lack of response to enzyme replacement therapy and the microscopic findings suggested that mechanisms apart from substrate accumulation and Gaucher cells may play a role in the hepatic pathogenesis in Gaucher disease. An attempt to use corticosteroids at the age of 3\u2009months resulted in a dramatic improvement in liver function and resulted in long\u2010term survival. The patient is alive and 2\u2009years old at this writing. Our case suggests that inflammatory processes may be important in the early pathogenesis of Gaucher disease and that early use of corticosteroids may open the way to a new therapeutic approach.<\/jats:p>","DOI":"10.1002\/ajmg.a.63196","type":"journal-article","created":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T09:15:21Z","timestamp":1680513321000},"page":"1917-1922","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Long\u2010term follow\u2010up of a patient with neonatal form of Gaucher disease"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6384-652X","authenticated-orcid":false,"given":"Vincenza","family":"Gragnaniello","sequence":"first","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services Padua University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Cazzorla","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services Padua University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Gueraldi","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services Padua University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Loro","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services Padua University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Massa","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services Padua University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Puma","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services Padua University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara","family":"Cananzi","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology, Department of Women's and Children's Health Padua University  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women and Children's Health Padua University  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro P.","family":"Burlina","sequence":"additional","affiliation":[{"name":"Neurology Unit St Bassiano Hospital  Bassano del Grappa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto B.","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services Padua University Hospital  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,3]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/acel.12409"},{"issue":"1","key":"e_1_2_11_3_1","first-page":"7","article-title":"Gaucher disease: New expanded classification emphasizing neurological features","volume":"13","author":"Alaei M. 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