{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:18:55Z","timestamp":1789431535624,"version":"build-2803163510"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T00:00:00Z","timestamp":1740700800000},"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. Genet."],"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe a case of Progressive Encephalopathy with or without Lipodystrophy (PELD), characterized by a late onset of neurological regression at 9\u00a0years old, due to a homozygous c.974dupG variant in the BSCL2 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An 11-year, 9-month-old girl with repeated seizures over 2\u00a0years underwent clinical assessment and genetic investigation. We also reviewed the published literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient exhibited mild intellectual disability, a lipodystrophic appearance, precocious puberty, voracious appetite, elevated transaminase levels, hyperlipidemia, hypercortisolism, hepatomegaly, fatty liver, and splenomegaly. Motor and cognitive regression occurred at 9\u00a0years. A homozygous pathogenic variant c.974dup (p.Ile326HisfsTer12) in exon 7 of BSCL2 (NM_001122955.4) was identified. Despite multiple antiseizure medications, seizures were refractory, leading to status epilepticus and rapid death after genetic diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We confirm that the BSCL2 c.974dupG variant is a cause of PELD. Regression may occur later than previously reported. Literature review suggests that the c.974dupG variant may present a milder phenotype compared to the classic c.985C&amp;gt;T variant. Early genetic testing and diagnosis are crucial for improving outcomes in rare neurodegenerative disorders like PELD.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2025.1528563","type":"journal-article","created":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T11:59:41Z","timestamp":1740743981000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review"],"prefix":"10.3389","volume":"16","author":[{"given":"Yao","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peiqi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,2,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"295","DOI":"10.22045\/ibj.2016.07","article-title":"Whole exome sequencing reveals a BSCL2 mutation causing progressive encephalopathy with lipodystrophy (PELD) in an Iranian pediatric patient","volume":"20","author":"Alaei","year":"2016","journal-title":"Iran. Biomed. J."},{"key":"B2","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1038\/s41431-017-0052-8","article-title":"Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy","volume":"26","author":"Ara\u00fajo-Vilar","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1333","DOI":"10.16352\/j.issn.1001-6325.2021.09.009","article-title":"A congenital generalized lipodystrophy patient complicated with critical central neurological involvement due to BSCL2 mutations","volume":"41","author":"Ding","year":"2021","journal-title":"Basic Clin. 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