{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:57:32Z","timestamp":1762459052696,"version":"3.44.0"},"reference-count":29,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Berardinelli\u2013Seip congenital lipodystrophy (BSCL) syndrome is a rare autosomal-recessive disease characterised by lipoatrophy and associated with deregulations of glycidic and lipid metabolism. We report three BSCL cases with its typical clinical picture and complications. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. Two cases present attention deficit hyperactivity and developmental learning disorders; another patient has hypertrophic myocardiopathy and polycystic ovary syndrome. In all the cases AGPAT2 was the identified mutation. All the cases present hypertriglyceridemia. One case has developed hyperinsulinism controlled with metformin and another case already has type 2 diabetes with a difficult clinical control. There is no curative treatment and the current treatment options are based only on symptomatic control of the complications. Recently, published studies showed that leptin-replacement therapy appears a promising tool in the metabolic correction of BSCL complications, highlighting the importance of further investigations in BSCL treatment.<\/jats:p>","DOI":"10.1136\/bcr-2012-007734","type":"journal-article","created":{"date-parts":[[2013,1,29]],"date-time":"2013-01-29T06:18:54Z","timestamp":1359440334000},"page":"bcr2012007734","source":"Crossref","is-referenced-by-count":6,"title":["Berardinelli\u2013Seip syndrome: highlight of treatment challenge"],"prefix":"10.1136","volume":"2013","author":[{"given":"N\u00e9lia","family":"Ferraria","sequence":"first","affiliation":[{"name":"Paediatric Department, Hospital Nossa Senhora do Ros\u00e1rio, Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Pedrosa","sequence":"additional","affiliation":[{"name":"Paediatric Department, Hospital Dona Estef\u00e2nia, Centro Hospitalar Lisboa Central, Lisboa, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Amaral","sequence":"additional","affiliation":[{"name":"Paediatric Department, Hospital Dona Estef\u00e2nia, Centro Hospitalar Lisboa Central, Lisboa, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lurdes","family":"Lopes","sequence":"additional","affiliation":[{"name":"Paediatric Department, Hospital Dona Estef\u00e2nia, Centro Hospitalar Lisboa Central, Lisboa, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,1,28]]},"reference":[{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-14-2-193"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.38.201.447"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.9.3390"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng585"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2008.12.014"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.5.2395"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.2.503"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2008.12.032"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.9","unstructured":"Van Maldergem L . Berardinelli\u2013Seip Congenital Lipodystrophy. 8 September 2003 (Updated 28 June 2012). In: Pagon RA Bird TD Dolan CR .eds. GeneReviews\u2122 (Internet). Seattle (WA): University of Washington, Seattle: 1993. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1212 \/ (accessed 18 December 2012)."},{"issue":"03_MeetingAbstracts","key":"2025082701380463000_2013.jan28_1.bcr2012007734.10","first-page":"OR07","article-title":"A case of Berardenelli-Seip congenital lipodystrophy with a novel mutation, BSCL2\/W107X, presenting with neonatal-onset diabetes","volume":"32","author":"Vasanwala","year":"2011","journal-title":"Endocr Rev"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030855"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.10.722"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.13","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0038-5"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.75.2.358"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.15","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1111\/j.1651-2227.1996.tb14262.x","article-title":"Generalized lipodystrophy, congenital and acquired (lipoatrophy)","volume":"413","author":"Seip","year":"1996","journal-title":"Acta Paediatr Suppl"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80087-6"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.17","first-page":"91","article-title":"Sindrome dos ov\u00e1rios polic\u00edsticos eresist\u00eancia \u00e0 insulina","volume":"8","author":"Pardini","year":"1993","journal-title":"Reprodu\u00e7\u00e3o"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.18","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/S0190-9622(89)70208-5","article-title":"Acanthosis nigricans: a cutaneous marker of tissue resistance to insulin","volume":"21","author":"Rendon","year":"1989","journal-title":"J Am Acad Dermatol"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.19","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610407.x"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.20","unstructured":"Pagon RA Bird TD Dolan CR . Berardinelli\u2013Seip congenital lipodystrophy. GeneReviews 2003:1993."},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9592.2011.03740.x"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.22","first-page":"160A","article-title":"Metformin improves metabolic control in subjects with congenital generalized lipoatrophic diabetes. In: 57th Annual Scientific Sessions, Boston, Massachusetts","volume":"46","author":"Pardini","year":"1997","journal-title":"Diabetes"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.23","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra025261"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.24","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200215001"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.25","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.7.1994"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.26","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-3165"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.27","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/hep.20672","article-title":"Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy","volume":"41","author":"Javor","year":"2002","journal-title":"Hepatology"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.28","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1546"},{"key":"2025082701380463000_2013.jan28_1.bcr2012007734.29","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012437"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-007734","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:38:16Z","timestamp":1756283896000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-007734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,28]]},"references-count":29,"alternative-id":["10.1136\/bcr-2012-007734"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-007734","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,1,28]]}}}