{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T17:18:30Z","timestamp":1770484710326,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,6,1]],"date-time":"2013-06-01T00:00:00Z","timestamp":1370044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective:<\/jats:title><jats:p><jats:italic>LIPA<\/jats:italic> gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency. Patients with CESD may often be misdiagnosed because symptoms may be nonspecific. Symptoms may present in infancy if there is complete loss of lysosomal acid lipase or in early childhood or adulthood when there is partial loss. The purpose of the present study is to review the literature for pediatric cases of CESD to better understand the phenotype of CESD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>A PubMed search of all English\u2010language publications from 1966 through June 2012 for pediatric CESD case reports using the following key words CESD, fatty liver, and NAFLD was performed. All of the cases were reviewed and information regarding age, sex, presenting symptoms, and pertinent laboratory tests were recorded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Seventy\u2010one cases were culled from 39 published case reports. Nearly two\u2010thirds of these patients presented with their first symptoms when they were younger than 5 years. Hepatomegaly and splenomegaly were common features. Serum transaminases and lipids were often elevated. Gastrointestinal symptoms were noted in approximately one\u2010third of cases. Two\u2010thirds of patients had liver fibrosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>CESD has an estimated incidence as high as 1 in 40,000, which means that it is presently underdiagnosed. Education about common symptoms of CESD as well as a higher level of suspicion for screening for CESD will lead to earlier diagnosis. New treatments for CESD including possible enzyme replacement therapy make early diagnosis especially important.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e31828b36ac","type":"journal-article","created":{"date-parts":[[2013,2,12]],"date-time":"2013-02-12T12:05:55Z","timestamp":1360670755000},"page":"682-685","source":"Crossref","is-referenced-by-count":51,"title":["Cholesteryl Ester Storage Disease"],"prefix":"10.1002","volume":"56","author":[{"given":"Bingnan","family":"Zhang","sequence":"first","affiliation":[{"name":"Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony F.","family":"Porto","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.28.5.742"},{"key":"e_1_2_10_3_1","first-page":"282","article-title":"Generalized xanthomatosis with calcified adrenals","volume":"91","author":"Abramov A","year":"1956","journal-title":"Am J Dis Child"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-58-4-718_1"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80557-X"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81866-9"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840110509"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2707"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)32518-9"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01605297"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/41.1.111"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116888"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00223858"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.107.146639"},{"key":"e_1_2_10_15_1","unstructured":"GrabowskiGA CharnasL DuH.Lysosomal acid lipase deficiencies: the Wolman disease\/cholesterol ester storage disease spectrum. The Online Metabolic & Molecular Bases of Inherited Disease.http:\/\/www.ommbid.com\/OMMBID\/a\/c.html\/lysosomal_disorders\/acid_lipase_deficiency_wolman_disease_cholesteryl_ester_storage_disease. Accessed February 16 2013."},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2904"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1997.tb03660.x"},{"key":"e_1_2_10_18_1","unstructured":"Lysosomal Acid Lipase Analysis.Baylor College of Medicine Medical Genetics Laboratories.https:\/\/www.bcm.edu\/geneticlabs\/test_detail.cfm?testcode=4504&show=1. 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Accessed November 26 2012."}],"container-title":["Journal of Pediatric Gastroenterology and Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1097\/MPG.0b013e31828b36ac","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T12:54:25Z","timestamp":1705582465000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1097\/MPG.0b013e31828b36ac"}},"subtitle":["Protean Presentations of Lysosomal Acid Lipase Deficiency"],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1097\/MPG.0b013e31828b36ac"],"URL":"https:\/\/doi.org\/10.1097\/mpg.0b013e31828b36ac","archive":["Portico"],"relation":{},"ISSN":["0277-2116","1536-4801"],"issn-type":[{"value":"0277-2116","type":"print"},{"value":"1536-4801","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6]]}}}