{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:53:11Z","timestamp":1791226391558,"version":"4.1.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"vor","delay-in-days":4,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by \u03b1-galactosidase A deficiency, resulting in progressive glycosphingolipid accumulation and multisystem morbidity. Early pediatric manifestations are frequently overlooked, delaying treatment and increasing the risk of irreversible organ damage. We describe a 14-year-old boy presenting with acroparesthesia, recurrent abdominal pain, exercise intolerance, and anhidrosis since early childhood. Clinical evaluation revealed peripheral neuropathy and short stature. Biochemical testing demonstrated nearly absent \u03b1-galactosidase A activity (0.1\u00a0\u03bcmol\/L\/h; N\u2009&amp;gt;\u20092.8) and markedly elevated lyso-GL-3 (135.6\u00a0ng\/mL; N\u2009&amp;lt;\u20093.5). Molecular analysis identified a hemizygous pathogenic variant, c.658C&amp;gt;T (p.Arg220*), confirming classic FD. Comprehensive baseline assessment showed no renal, cardiac, ophthalmologic, or cerebrovascular involvement. Familial screening revealed the same mutation in his mother and a symptomatic maternal uncle. Enzyme replacement therapy (ERT) with agalsidase beta was initiated. Early recognition in childhood is critical to optimize outcomes and modify disease progression.<\/jats:p>","DOI":"10.1093\/omcr\/omag191","type":"journal-article","created":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:41:16Z","timestamp":1790682076000},"source":"Crossref","is-referenced-by-count":0,"title":["Pediatric Fabry disease revealed by early neuropathic symptoms: a case report"],"prefix":"10.1093","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2315-135X","authenticated-orcid":false,"given":"Imane","family":"Mezdaoui","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Military Hospital Mohammed V , Avenue des Forces Arm\u00e9es Royales, Hay Riad, Rabat 10000 ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelilah","family":"Radi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Military Hospital Mohammed V , Avenue des Forces Arm\u00e9es Royales, Hay Riad, Rabat 10000 ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Babour","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Military Hospital Mohammed V , Avenue des Forces Arm\u00e9es Royales, Hay Riad, Rabat 10000 ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azzeddine","family":"Laaraje","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Military Hospital Mohammed V , Avenue des Forces Arm\u00e9es Royales, Hay Riad, Rabat 10000 ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amale","family":"Hassani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Military Hospital Mohammed V , Avenue des Forces Arm\u00e9es Royales, Hay Riad, Rabat 10000 ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachid","family":"Abilkassem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Military Hospital Mohammed V , Avenue des Forces Arm\u00e9es Royales, Hay Riad, Rabat 10000 ,","place":["Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,10,5]]},"reference":[{"key":"2026100514081005400_ref1","volume-title":"StatPearls [Internet]","author":"Bokhari","year":"2025"},{"key":"2026100514081005400_ref2","doi-asserted-by":"publisher","first-page":"271","DOI":"10.3390\/biom11020271","article-title":"Fabry disease: molecular basis, pathophysiology, diagnostics and potential therapeutic directions","volume":"11","author":"Kok","year":"2021","journal-title":"Biomolecules"},{"key":"2026100514081005400_ref3","doi-asserted-by":"publisher","first-page":"3161","DOI":"10.1007\/s11255-024-04042-4","article-title":"Fabry disease: 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