{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T08:50:31Z","timestamp":1778057431870,"version":"3.51.4"},"reference-count":10,"publisher":"The Endocrine Society","issue":"3","funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01-DK105448"],"award-info":[{"award-number":["R01-DK105448"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by mutations in caveolae-associated protein 1. Patients with CGL4 also have myopathy and cardiomyopathy with a predisposition for sudden death due to ventricular arrhythmias. However, the underlying pathology for these morbidities remains unknown. Therefore, we report on an autopsy of a Hispanic boy with CGL4.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case Description<\/jats:title>\n                  <jats:p>Our patient had early-onset generalized lipodystrophy, feeding difficulties, myopathy, atlanto-axial dislocation, and learning disabilities. He was diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) at age 8 years, had poor compliance with medications, and died suddenly at age 15.3 years. Autopsy showed marked loss of subcutaneous and omental fat with no inflammatory cells in adipose tissue and normal adipocytes in the parathyroid glands. There were adipocytes interdigitating cardiac muscle fibers, with fibro-fatty infiltration in the right ventricle, near coronary sinus, and atrioventricular node. There was no evidence of coronary heart disease. The quadriceps femoris muscle did not show adipocyte infiltration, inflammation, or fibrosis. The muscularis mucosa layer was thickened in the esophagus and at the gastro-duodenal junction, and the esophagus had prominent, large nerves in the subserosa. The liver weighed 3000 g, with minimal chronic inflammation and steatosis in 40% of parenchyma, primarily in zones 2 and 3. There was no spermatogenesis in the spermatic tubules.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our data suggest that fibro-fatty infiltration of the right ventricle may contribute to CPVT in patients with CGL4. Thick muscularis mucosa and large nerves in the esophagus likely contributed to dysphagia and dysmotility. A lack of spermatids suggests infertility in affected male patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2018-01331","type":"journal-article","created":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T22:33:18Z","timestamp":1542839598000},"page":"957-960","source":"Crossref","is-referenced-by-count":14,"title":["Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5926-7784","authenticated-orcid":false,"given":"Nivedita","family":"Patni","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics and Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Vuitch","sequence":"additional","affiliation":[{"name":"Department of Pathology, UT Southwestern Medical Center, Dallas, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7209-6986","authenticated-orcid":false,"given":"Abhimanyu","family":"Garg","sequence":"additional","affiliation":[{"name":"Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition; UT Southwestern Medical Center, Dallas, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2018,11,21]]},"reference":[{"issue":"9","key":"2020071622424241000_B1","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2015.123","article-title":"Congenital generalized lipodystrophies: new insights into metabolic dysfunction","volume":"11","author":"Patni","year":"2015","journal-title":"Nat Rev Endocrinol"},{"issue":"4","key":"2020071622424241000_B2","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.ejmg.2015.02.002","article-title":"Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family","volume":"58","author":"Jelani","year":"2015","journal-title":"Eur J Med Genet"},{"issue":"9","key":"2020071622424241000_B3","doi-asserted-by":"crossref","first-page":"2245","DOI":"10.1002\/ajmg.a.33578","article-title":"Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations","volume":"152A","author":"Shastry","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2020071622424241000_B4","doi-asserted-by":"crossref","first-page":"e1000874","DOI":"10.1371\/journal.pgen.1000874","article-title":"Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations","volume":"6","author":"Rajab","year":"2010","journal-title":"PLoS Genet"},{"issue":"18","key":"2020071622424241000_B5","doi-asserted-by":"crossref","first-page":"2318","DOI":"10.1002\/ajmg.a.32457","article-title":"Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability","volume":"146A","author":"Simha","year":"2008","journal-title":"Am J Med Genet A"},{"issue":"4","key":"2020071622424241000_B6","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.cmet.2008.07.008","article-title":"Deletion of Cavin\/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance","volume":"8","author":"Liu","year":"2008","journal-title":"Cell Metab"},{"issue":"1","key":"2020071622424241000_B7","doi-asserted-by":"crossref","first-page":"28","DOI":"10.2337\/diacare.19.1.28","article-title":"Severe islet amyloidosis in congenital generalized lipodystrophy","volume":"19","author":"Garg","year":"1996","journal-title":"Diabetes Care"},{"issue":"9","key":"2020071622424241000_B8","doi-asserted-by":"crossref","first-page":"e0162513","DOI":"10.1371\/journal.pone.0162513","article-title":"PTRF\/Cavin-1 deficiency causes cardiac dysfunction accompanied by cardiomyocyte hypertrophy and cardiac fibrosis","volume":"11","author":"Taniguchi","year":"2016","journal-title":"PLoS One"},{"issue":"1","key":"2020071622424241000_B9","doi-asserted-by":"crossref","first-page":"e00008","DOI":"10.1002\/PHY2.8","article-title":"Elevated pulmonary arterial pressure and altered expression of Ddah1 and Arg1 in mice lacking cavin-1\/PTRF","volume":"1","author":"Sw\u00e4rd","year":"2013","journal-title":"Physiol Rep"},{"issue":"9","key":"2020071622424241000_B10","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1172\/JCI38660","article-title":"Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy","volume":"119","author":"Hayashi","year":"2009","journal-title":"J Clin Invest"}],"container-title":["The Journal of Clinical Endocrinology &amp; 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