{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T07:10:40Z","timestamp":1794381040288,"version":"4.9.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2015,5,22]],"date-time":"2015-05-22T00:00:00Z","timestamp":1432252800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2015,5,22]],"date-time":"2015-05-22T00:00:00Z","timestamp":1432252800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n              <jats:p>Berardinelli-Seip congenital lipodystrophy (BSCL) is an uncommon autosomal recessive disorder. Patients with BSCL present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. During childhood, diabetes and acanthosis nigricans evolve and female patients may develop hirsutism. Different genes encoding this entity have been described. Achalasia is a rare esophageal motility disorder, characterized by its distinct motility pattern with absent or incomplete lower esophageal sphincter (LES) relaxations. The exact cause of achalasia is yet unknown. Here, we describe a patient with achalasia in the context of BSCL, which might be linked by a shared pathophysiologic background, as evaluated in this case report.<\/jats:p>\n              <jats:p><jats:italic>Conclusion<\/jats:italic>: In a BSCL patient presenting with gastrointestinal symptoms, a motility disorder of the gastrointestinal tract should be considered.<jats:table-wrap><jats:table><jats:tbody>\n                    <jats:tr>\n                      <jats:td><jats:bold>What is Known:<\/jats:bold>\u2022 <jats:italic>Berardinelli-Seip congenital lipodystrophy (BSCL) and achalasia are both disorders characterized by low prevalence.<\/jats:italic><\/jats:td>\n                    <\/jats:tr>\n                    <jats:tr>\n                      <jats:td><jats:bold>What is New:<\/jats:bold>\u2022 <jats:italic>Co-existence of both diseases is described in this report. Linkage by a potential common pathophysiologic background is discussed in this paper.<\/jats:italic><\/jats:td>\n                    <\/jats:tr>\n                  <\/jats:tbody><\/jats:table><\/jats:table-wrap><\/jats:p>","DOI":"10.1007\/s00431-015-2556-y","type":"journal-article","created":{"date-parts":[[2015,5,21]],"date-time":"2015-05-21T02:16:54Z","timestamp":1432174614000},"page":"975-980","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?"],"prefix":"10.1007","volume":"174","author":[{"given":"Rachel J.","family":"van der Pol","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc A.","family":"Benninga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyne","family":"Magr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost","family":"Rotteveel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo S.","family":"van der Knaap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim G.","family":"de Meij","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,5,22]]},"reference":[{"key":"2556_CR1","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/ng880","volume":"31","author":"AK Agarwal","year":"2002","unstructured":"Agarwal AK, Arioglu E, De Almeida S et al (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 31:21\u201323. doi:\n                  10.1038\/ng880","journal-title":"Nat Genet"},{"issue":"Suppl 1","key":"2556_CR2","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1111\/j.1365-2982.2011.01834.x","volume":"24","author":"AJ Bredenoord","year":"2012","unstructured":"Bredenoord AJ, Fox M, Kahrilas PJ et al (2012) Chicago classification criteria of esophageal motility disorders defined in high resolution esophageal pressure topography. Neurogastroenterol Motil 24(Suppl 1):57\u201365","journal-title":"Neurogastroenterol Motil"},{"key":"2556_CR3","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1194\/jlr.R023754","volume":"53","author":"BR Cartwright","year":"2012","unstructured":"Cartwright BR, Goodman JM (2012) Seipin: from human disease to molecular mechanism. J Lipid Res 53:1042\u20131055","journal-title":"J Lipid Res"},{"key":"2556_CR4","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1016\/j.ejmg.2014.06.006","volume":"57","author":"DA Dyment","year":"2014","unstructured":"Dyment DA, Gibson WT, Huang L et al (2014) Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. Eur J Med Genet 57:524\u2013526","journal-title":"Eur J Med Genet"},{"key":"2556_CR5","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1038\/sj.bjp.0706289","volume":"145","author":"AF El-Yazbi","year":"2005","unstructured":"El-Yazbi AF, Cho W-J, Boddy G, Daniel EE (2005) Caveolin-1 gene knockout impairs nitrergic function in mouse small intestine. Br J Pharmacol 145:1017\u20131026","journal-title":"Br J Pharmacol"},{"key":"2556_CR6","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/S0002-9343(99)00414-3","volume":"108","author":"A Garg","year":"2000","unstructured":"Garg A (2000) Lipodystrophies. Am J Med 108:143\u2013152","journal-title":"Am J Med"},{"key":"2556_CR7","doi-asserted-by":"publisher","first-page":"3313","DOI":"10.1210\/jc.2011-1159","volume":"96","author":"A Garg","year":"2011","unstructured":"Garg A (2011) Clinical review: lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 96:3313\u20133325","journal-title":"J Clin Endocrinol Metab"},{"key":"2556_CR8","doi-asserted-by":"publisher","first-page":"2623","DOI":"10.1172\/JCI38660","volume":"119","author":"YK Hayashi","year":"2009","unstructured":"Hayashi YK, Matsuda C, Ogawa M et al (2009) Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest 119:2623\u20132633","journal-title":"J Clin Invest"},{"key":"2556_CR9","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1210\/jc.2007-1328","volume":"93","author":"CA Kim","year":"2008","unstructured":"Kim CA, Del\u00e9pine M, Boutet E et al (2008) Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab 93:1129\u20131134","journal-title":"J Clin Endocrinol Metab"},{"key":"2556_CR10","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1038\/ng585","volume":"28","author":"J Magr\u00e9","year":"2001","unstructured":"Magr\u00e9 J, Del\u00e9pine M, Khallouf E et al (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 28:365\u2013370","journal-title":"Nat Genet"},{"key":"2556_CR11","doi-asserted-by":"publisher","first-page":"1573","DOI":"10.2337\/diabetes.52.6.1573","volume":"52","author":"J Magr\u00e9","year":"2003","unstructured":"Magr\u00e9 J, Del\u00e9pine M, Van Maldergem L et al (2003) Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes 52:1573\u20131578","journal-title":"Diabetes"},{"issue":"2","key":"2556_CR12","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/nrm3512","volume":"14","author":"RG Parton","year":"2013","unstructured":"Parton RG, del Pozo MA (2013) Caveolae as plasma membrane sensors, protectors and organizers. Nat Rev Mol Cell Biol 14(2):98\u2013112. doi:\n                  10.1038\/nrm3512","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2556_CR13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000874","volume":"6","author":"A Rajab","year":"2010","unstructured":"Rajab A, Straub V, McCann LJ et al (2010) Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet 6, e1000874","journal-title":"PLoS Genet"},{"issue":"Suppl 2","key":"2556_CR14","first-page":"S17","volume":"53","author":"WO Rohof","year":"2011","unstructured":"Rohof WO, Boeckxstaens GE (2011) New insights in pathophysiology and management of achalasia. J Pediatr Gastroenterol Nutr 53(Suppl 2):S17\u2013S19","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2556_CR15","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/S0016-5085(98)70198-2","volume":"115","author":"SM Ward","year":"1998","unstructured":"Ward SM, Morris G, Reese L et al (1998) Interstitial cells of Cajal mediate enteric inhibitory neurotransmission in the lower esophageal and pyloric sphincters. Gastroenterology 115:314\u2013329","journal-title":"Gastroenterology"},{"key":"2556_CR16","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1111\/j.1365-2982.2006.00788.x","volume":"18","author":"N Zarate","year":"2006","unstructured":"Zarate N, Wang XY, Tougas G et al (2006) Intramuscular interstitial cells of Cajal associated with mast cells survive nitrergic nerves in achalasia. Neurogastroenterol Motil 18:556\u2013568","journal-title":"Neurogastroenterol Motil"}],"updated-by":[{"DOI":"10.1007\/s00431-020-03743-z","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T00:00:00Z","timestamp":1595548800000}}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-015-2556-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-015-2556-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-015-2556-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-015-2556-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,8]],"date-time":"2020-09-08T09:05:06Z","timestamp":1599555906000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-015-2556-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,22]]},"references-count":16,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["2556"],"URL":"https:\/\/doi.org\/10.1007\/s00431-015-2556-y","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s00431-020-03743-z","asserted-by":"object"}]},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,22]]},"assertion":[{"value":"25 January 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 April 2015","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 April 2015","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 July 2020","order":5,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":6,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Although the patient has provided consent for publication of this case report and accompanying images, after publication of this article it has come to the authors' attention that Fig. 1 needs changes to better protect the privacy of the patient. A modified Fig. 1 is included in this Erratum. The original Fig. 1 has been removed to protect the patient's privacy.","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}}]}}