{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T12:06:37Z","timestamp":1790683597389,"version":"4.1.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T00:00:00Z","timestamp":1633910400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T00:00:00Z","timestamp":1633910400000},"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":["BMC Pediatr"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Chylomicron retention disease (Anderson disease) is a result for variant of the SAR1B gene. It is a rare autosomal recessive hereditary disorder with most incidence in infant. It is characterized by lipid malabsorption syndrome with fatty, chronic diarrhea, and growth retardation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report a case of a 19-month Syrian boy who presented with vomiting, growth failure, and chronic, fatty diarrhea. Upper gastrointestinal endoscopy showed whitish appearing duodenal mucosa and small intestinal biopsies revealed steatosis of enterocytes. Genetic testing confirmed chylomicron retention disease with the first description of variant located in the fourth helix of <jats:italic>sar1b<\/jats:italic> protein. The patient is treated with nutritional supplements and fat-soluble vitamin supplementation resulting in significant improvement.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Early endoscopy is recommended in infants with persistent vomiting and failure to thrive due to high suspicion for a disorder of hypocholesterolemia. Early diagnosis and treatment are essential to avoid serious clinical complications, especially neurological impairment.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-021-02897-5","type":"journal-article","created":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T03:22:08Z","timestamp":1633922528000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0814-5135","authenticated-orcid":false,"given":"Leen Jamel","family":"Doya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lava","family":"Mohammad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razan","family":"Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander Ali","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nizar","family":"Yousef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Adib","family":"Houreih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,11]]},"reference":[{"issue":"1","key":"2897_CR1","doi-asserted-by":"publisher","first-page":"617","DOI":"10.5694\/j.1326-5377.1961.tb69860.x","volume":"2","author":"CM Anderson","year":"1961","unstructured":"Anderson CM, Townley RR, Freemanm JP. Unusual causes of steatorrhoea in infancy and childhood. Med J Aust. 1961;2(1):617\u201322. https:\/\/doi.org\/10.5694\/j.1326-5377.1961.tb69860.x.","journal-title":"Med J Aust"},{"key":"2897_CR2","doi-asserted-by":"crossref","unstructured":"Peretti N. Lessons from chylomicron retention disease: a potential new approach for the treatment of hypercholesterolemia?. Expert Opin Orphan Drugs. 2018;6(3):163\u20135. https:\/\/doi.org\/10.1080\/21678707.2018.1438259.","DOI":"10.1080\/21678707.2018.1438259"},{"issue":"3","key":"2897_CR3","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1038\/ng1145","volume":"34","author":"B Jones","year":"2003","unstructured":"Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, et al. Variants in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet. 2003;34(3):29\u201331. https:\/\/doi.org\/10.1038\/ng1145.","journal-title":"Nat Genet"},{"issue":"2","key":"2897_CR4","doi-asserted-by":"publisher","first-page":"134","DOI":"10.5223\/pghn.2018.21.2.134","volume":"21","author":"H Ferreira","year":"2018","unstructured":"Ferreira H, Ramos RN, Quan CF, Ferreiro SR, Ruiz VC, Juamp\u00e9rez Go\u00f1i J, et al. Chylomicron retention disease: a description of a new variant in a very rare disease. Pediatr Gastroenterol Hepatol Nutr. 2018;21(2):134\u201340. https:\/\/doi.org\/10.5223\/pghn.2018.21.2.134.","journal-title":"Pediatr Gastroenterol Hepatol Nutr"},{"issue":"4","key":"2897_CR5","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/1750-1172-5-24","volume":"5","author":"N Peretti","year":"2010","unstructured":"Peretti N, Sassolas A, Roy CC, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis. 2010;5(4):24\u20138. https:\/\/doi.org\/10.1186\/1750-1172-5-24.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"2897_CR6","first-page":"1","volume":"6","author":"T Okada","year":"2011","unstructured":"Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, SamsonBouma ME, et al. Anderson\u2019s disease\/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. Orphanet J Rare Dis. 2011;6(2):1\u20139 http:\/\/www.ojrd.com\/content\/6\/1\/78.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"2897_CR7","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1093\/jcag\/gwy009.177","volume":"1","author":"M Woods","year":"2018","unstructured":"Woods M, Parkash S, Chowdhury S, Rashid M. A177 chylomicron retention disease: a case of infant presenting with vomiting and failure to thrive without diarrhea. J Can Assoc Gastroenterol. 2018;1(2):261\u20136. https:\/\/doi.org\/10.1093\/jcag\/gwy009.177.","journal-title":"J Can Assoc Gastroenterol"},{"issue":"1","key":"2897_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1750-1172-5-24","volume":"5","author":"N Peretti","year":"2010","unstructured":"Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis. 2010;5(1):1\u201313. https:\/\/doi.org\/10.1186\/1750-1172-5-24.","journal-title":"Orphanet J Rare Dis."},{"issue":"2","key":"2897_CR9","doi-asserted-by":"publisher","first-page":"699","DOI":"10.32677\/IJCH.2018.v05.i11.012","volume":"5","author":"J Ibrahim","year":"2018","unstructured":"Ibrahim J, Zaabi N, Hertecant J. Chylomicron retention disease in a 2-year-old girl with a novel deletion in the SAR1b gene: a case report and literature review. Indian J Child Health. 2018;5(2):699\u2013702. https:\/\/doi.org\/10.32677\/IJCH.2018.v05.i11.012.","journal-title":"Indian J Child Health"},{"issue":"1","key":"2897_CR10","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1515\/jpem-2012-0243","volume":"25","author":"P Papadogeorgou","year":"2012","unstructured":"Papadogeorgou P, Roma E, Sassolas A, Orfanou I, Malliarou A, Sakka S, et al. Chylomicron retention disease: report of two cases from a Greek Island. J Pediatr Endocrinol Metab. 2012;25(1):1191\u20134. https:\/\/doi.org\/10.1515\/jpem-2012-0243.","journal-title":"J Pediatr Endocrinol Metab"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-021-02897-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-021-02897-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-021-02897-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T15:38:34Z","timestamp":1633966714000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-021-02897-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,11]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2897"],"URL":"https:\/\/doi.org\/10.1186\/s12887-021-02897-5","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,11]]},"assertion":[{"value":"17 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 September 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 October 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This case report did not require review by the Ethics Committee Tishreen university hospital, Lattakia, Syria.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s parents for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All of the authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"449"}}