{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T13:20:41Z","timestamp":1789046441193,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T00:00:00Z","timestamp":1788998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T00:00:00Z","timestamp":1788998400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27\u2010hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice\/cholestasis, that can resolve or can progress to fatal liver disease. Many cholestasis gene panel tests now include\n                    <jats:italic>CYP27A1<\/jats:italic>\n                    . For infants presenting with cholestasis that are identified to have CTX, follow\u2010up biochemical testing is recommended. Here, we describe a case of an infant with neonatal jaundice genetically diagnosed with CTX through the use of cholestasis gene panel testing. Follow\u2010up biochemical testing determined the infant had normal plasma cholestanol, inconsistent with a diagnosis of CTX according to expert guidance. We report that quantitative biochemical testing for bile acid precursors and bile alcohols provided definitive biochemical evidence of CTX and recommend that such testing is advised in infants with\n                    <jats:italic>CYP27A1<\/jats:italic>\n                    gene analysis indicative of CTX.\n                  <\/jats:p>","DOI":"10.1002\/jpr3.70225","type":"journal-article","created":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T12:06:08Z","timestamp":1789041968000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8910-0259","authenticated-orcid":false,"given":"Andrea E.","family":"DeBarber","sequence":"first","affiliation":[{"name":"School of Medicine Oregon Health &amp; Science University Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Fowler","sequence":"additional","affiliation":[{"name":"School of Medicine Oregon Health &amp; Science University Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Barton Duell","sequence":"additional","affiliation":[{"name":"Center for Preventive Cardiology, Knight Cardiovascular Institute &amp; Division of Endocrinology, Diabetes &amp; Clinical Nutrition Oregon Health &amp; Science University Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Dybbro","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology &amp; Hepatology Phoenix Children's Hospital Phoenix Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,10]]},"reference":[{"issue":"9","key":"e_1_2_7_2_1","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1016\/j.clinbiochem.2014.04.017","article-title":"A useful multi\u2010analyte blood test for cerebrotendinous xanthomatosis","volume":"47","author":"DeBarber AE","year":"2014","journal-title":"Clin Biochem"},{"issue":"3","key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"e465","DOI":"10.1016\/j.jacl.2024.03.004","article-title":"Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols","volume":"18","author":"DeBarber AE","year":"2024","journal-title":"J Clin Lipidol"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.1049850","article-title":"Cerebrotendinous Xanthomatosis: a practice review of pathophysiology, diagnosis, and treatment","volume":"13","author":"Paulo RN","year":"2022","journal-title":"Front Neurol"},{"issue":"1","key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1186\/s13023-021-01980-5","article-title":"Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study","volume":"16","author":"Stelten BML","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s004310050818","article-title":"Treatment and follow\u2010up of children with cerebrotendinous xanthomatosis","volume":"157","author":"Van Heijst AFJ","year":"1998","journal-title":"Eur J Pediatr"},{"issue":"3","key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/s10545-013-9674-3","article-title":"A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis","volume":"37","author":"Mignarri A","year":"2014","journal-title":"J Inherited Metab Dis"},{"issue":"6","key":"e_1_2_7_8_1","doi-asserted-by":"crossref","DOI":"10.1111\/petr.14318","article-title":"Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure","volume":"26","author":"Pietrobattista A","year":"2022","journal-title":"Pediatr Tranplant"},{"issue":"4","key":"e_1_2_7_9_1","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1007\/s12519-018-0151-9","article-title":"Liver transplantation due to cerebrotendinous xanthomatosis end\u2010stage liver disease","volume":"14","author":"Shen CH","year":"2018","journal-title":"World J Pediatr"},{"key":"e_1_2_7_10_1","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2020.616582","article-title":"Sterol 27\u2010hydroxylase deficiency as a cause of neonatal cholestasis: report of 2 cases and review of the literature","volume":"8","author":"Lipi\u0144ski P","year":"2021","journal-title":"Front Pediatr"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","first-page":"382","DOI":"10.3389\/fped.2020.00382","article-title":"Case report: early treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis presenting as neonatal cholestasis","volume":"8","author":"Degrassi I","year":"2020","journal-title":"Front Pediatr"},{"issue":"1","key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jacl.2020.12.004","article-title":"Cholestasis as a dominating symptom of patients with CYP27A1 mutations: an analysis of 17 Chinese infants","volume":"15","author":"Zhang P","year":"2021","journal-title":"J Clin Lipidol"},{"issue":"5","key":"e_1_2_7_13_1","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1097\/MPG.0000000000001730","article-title":"Severe neonatal cholestasis in cerebrotendinous xanthomatosis: genetics, immunostaining, mass spectrometry","volume":"65","author":"Gong JY","year":"2017","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"2","key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s10545-008-0815-z","article-title":"Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy","volume":"31","author":"Pierre G","year":"2008","journal-title":"J Inherited Metab Dis"},{"issue":"6","key":"e_1_2_7_15_1","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1023\/A:1021211520034","article-title":"Mutations in the sterol 27\u2010hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis","volume":"25","author":"Clayton PT","year":"2002","journal-title":"J Inherited Metab Dis"},{"issue":"4","key":"e_1_2_7_16_1","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1097\/01.MPG.0000150419.23031.2A","article-title":"Mutation in the sterol 27\u2010hydroxylase gene associated with fatal cholestasis in infancy","volume":"40","author":"Bahr S","year":"2005","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"e_1_2_7_17_1","article-title":"Early diagnosis and follow\u2010up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: a case study from Saudi Arabia","volume":"42","author":"Alsaleem BM","year":"2025","journal-title":"Mol Genet Metab Rep"},{"issue":"1","key":"e_1_2_7_18_1","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s00431-015-2584-7","article-title":"Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment","volume":"175","author":"Huidekoper HH","year":"2016","journal-title":"Eur J Pediatr"},{"issue":"5","key":"e_1_2_7_19_1","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.metabol.2003.12.003","article-title":"Hydrophilic 7\u03b2\u2010hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosis","volume":"53","author":"Batta 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