{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:24:00Z","timestamp":1787318640162,"version":"build-2736575974"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2014,4,16]]},"abstract":"<jats:p>Lysosomal acid lipase (LAL) deficiency is a rare autosomal recessive disorder which causes two distinct clinical phenotypes: Wolman's disease and cholesterol ester storage disease. LAL hydrolyses LDL-derived triglycerides and cholesterol esters to glycerol or cholesterol and free fatty acids. Its deficiency leads to accumulation of intracellular triglycerides and\/or cholesterol esters. In early onset LAL deficiency, clinical manifestations start in the first few weeks of life with persistent vomiting, failure to thrive, hepatosplenomegaly, liver dysfunction and hepatic failure. Adrenal calcification is a striking feature but is present in only about 50% of cases. We report a case of an infant presenting with vomiting, diarrhoea, hepatosplenomegaly and poor weight gain that was subsequently diagnosed as Wolman's disease. He was entered into a clinical trial for LAL replacement therapy. This case reinforces that early onset LAL deficiency should be considered in a baby presenting with failure to thrive, gastrointestinal symptoms and hepatosplenomegaly.<\/jats:p>","DOI":"10.1136\/bcr-2013-202652","type":"journal-article","created":{"date-parts":[[2014,5,15]],"date-time":"2014-05-15T09:10:52Z","timestamp":1400145052000},"page":"bcr2013202652","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Infant case of lysosomal acid lipase deficiency: Wolman's disease"],"prefix":"10.1136","volume":"2014","author":[{"given":"Meghmala","family":"Sadhukhan","sequence":"first","affiliation":[{"name":"Maidstone & Tunbridge Wells NHS Trust, Pembury, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Saha","sequence":"additional","affiliation":[{"name":"Department of Paediatrics & Neonatology, Maidstone and Tunbridge Wells Hospitals NHS Trust, Pembury, Kent, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshni","family":"Vara","sequence":"additional","affiliation":[{"name":"Department of Paediatric Inherited Metabolic Diseases, Evelina Children's Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bim","family":"Bhaduri","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Maidstone and Tunbridge Wells, Kent, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2014,5,15]]},"reference":[{"key":"2025082707474205000_2014.may14_4.bcr2013202652.1","doi-asserted-by":"crossref","first-page":"120","DOI":"10.5144\/0256-4947.1998.120","article-title":"Wolman's disease: The King Faisal Specialist Hospital and Research Centre experience","volume":"18","author":"Al Essa","year":"1998","journal-title":"Ann Saudi Med"},{"key":"2025082707474205000_2014.may14_4.bcr2013202652.2","unstructured":"LAL DEFICIENCY SOURCE+. About LAL Deficiency. United States: Synageva BioPharma Corporation. http:\/\/www.laldeficiencysource.com\/about-lal-deficiency (accessed 24 Mar 2014)."},{"key":"2025082707474205000_2014.may14_4.bcr2013202652.3","first-page":"232","article-title":"Wolman's disease","volume":"32","author":"Uniyal","year":"1995","journal-title":"Indian Paediatr"},{"key":"2025082707474205000_2014.may14_4.bcr2013202652.4","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e318252a13f"},{"key":"2025082707474205000_2014.may14_4.bcr2013202652.5","first-page":"282","article-title":"Generalized xanthomatosis with calcified adrenals","volume":"91","author":"Abramov","year":"1956","journal-title":"AMA J Dis Child"},{"key":"2025082707474205000_2014.may14_4.bcr2013202652.6","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1542\/peds.28.5.742","article-title":"Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant","volume":"28","author":"Wolman","year":"1961","journal-title":"Pediatrics"},{"key":"2025082707474205000_2014.may14_4.bcr2013202652.7","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1542\/peds.35.4.627","article-title":"Wolman's disease: three new patients with a recently described lipidosis","volume":"35","author":"Crocker","year":"1965","journal-title":"Pediatrics"},{"key":"2025082707474205000_2014.may14_4.bcr2013202652.8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1702557"},{"key":"2025082707474205000_2014.may14_4.bcr2013202652.9","unstructured":"ClinicalTrails.gov. Trial in children with growth failure due to early onset lysosomal acid lipase (LAL) deficiency\/Wolman disease. U.S. National Institutes of Health. June 9 2011. http:\/\/www.clinicaltrials.gov\/ct2\/show\/NCT01371825 (accessed 25 Mar 2014)."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-202652","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:47:48Z","timestamp":1756306068000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-202652"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,15]]},"references-count":9,"alternative-id":["10.1136\/bcr-2013-202652"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-202652","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,15]]}}}