{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T17:02:00Z","timestamp":1780333320516,"version":"3.54.1"},"reference-count":16,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T00:00:00Z","timestamp":1757376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T00:00:00Z","timestamp":1757376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>&lt;p&gt;Introduction: Lipodystrophy syndromes (LS) represent a clinically and genetically heterogeneous group of disorders of adipose tissue. LS are characterized by a partial or generalized deficiency of adipose tissue and variations in fat distribution throughout the body. Metabolic complications serve as significant determinants of morbidity and mortality in these syndromes. Case Presentation: The patient was assessed for general lipodystrophy and myopathy findings, and a CAVIN1 mutation was identified by next generation sequencing. Our patient exhibited low leptin and vitamin D levels, categorized as metabolic disorders, alongside increased insulin resistance. Additionally, low insulin-like growth factor 1 levels and delayed puberty were noted as hormonal disorders. Osteoporosis, scoliosis, ventricular extrasystoles, and ventricular tachycardia were observed as morbid conditions during the follow-up. We detected hypoplasia of the anterior cerebral artery and the internal carotid artery, which are seen as ultrarare. A coexistent structural cerebral vascular anomaly has not been previously reported in congenital generalized lipodystrophy type 4. Conclusion: Congenital generalized lipodystrophy type 4 should be considered when associated with elevated liver enzyme levels and creatine phosphokinase values. Determining the underlying genetic cause enables an expeditious monitoring and treatment process. &lt;\/p&gt;<\/jats:p>","DOI":"10.1159\/000548361","type":"journal-article","created":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T16:01:01Z","timestamp":1757433661000},"page":"280-287","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report"],"prefix":"10.1159","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0269-0941","authenticated-orcid":false,"given":"Nagehan","family":"Bilge\u00e7","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beray Selver","family":"Eklio\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Halil \u0130brahim","family":"G\u00fcn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6zg\u00fcr","family":"Balasar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Emre","family":"Atabek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fcseyin","family":"\u00c7aksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2025,9,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.05.001"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63533"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/endo-98-6-1359"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2021.104075"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/dom.15061"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2023.1212729"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000522620"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.11.042"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1159"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.5644\/ama2006-124.150"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.47391\/JPMA.3182"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103819"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1408523111"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2008.07.008"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1172\/JCI38660"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.4103\/2230-8210.105575"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000548361","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T16:04:40Z","timestamp":1780329880000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000548361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,9]]},"references-count":16,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,6,1]]},"published-print":{"date-parts":[[2026,6,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000548361","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.30067780","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,9]]}}}