{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T00:13:52Z","timestamp":1789085632790,"version":"build-2803163510"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p><jats:bold>Introduction:<\/jats:bold> Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1\u20132% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the <jats:italic>CYP27A1<\/jats:italic> gene resulting in the impairment of sterol 27-hydroxylase enzyme activity.<\/jats:p><jats:p><jats:bold>Patients and Methods:<\/jats:bold> Here we present the study on two siblings with neonatal cholestasis diagnosed with sterol 27-hydroxylase deficiency. The clinical, biochemical, histological, and molecular presentation at the time of diagnosis and detailed follow-up were described. An extensive overview of the literature regarding patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis was also provided.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> Patient 1 presented with cholestatic jaundice since 10 weeks of age and developed the end-stage liver disease requiring liver transplantation at 8 months of age but finally succumbed 3 years post-transplantation due to autoimmune hemolytic anemia and multiorgan failure development. Next-generation sequencing performed <jats:italic>post mortem<\/jats:italic>, revealed him to be homozygous for the known pathogenic splicing variant c.1184+1G&amp;gt;A in the <jats:italic>CYP27A1<\/jats:italic> gene. Patient 2 (sibling) presented with cholestatic jaundice since the first day of life. Sanger sequencing of <jats:italic>CYP27A1<\/jats:italic> revealed the same results. Chenodeoxycholic acid treatment was introduced just after diagnosis, at 4 months of age. Fourteen patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis were reported in the literature, in most of them presenting as a self-limiting disease.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> An early recognition and treatment initiation in CTX is essential.<\/jats:p>","DOI":"10.3389\/fped.2020.616582","type":"journal-article","created":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T07:58:40Z","timestamp":1610611120000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature"],"prefix":"10.3389","volume":"8","author":[{"given":"Patryk","family":"Lipi\u0144ski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Klaudel-Dreszler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elzbieta","family":"Ciara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Jurkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Cielecka-Kuszyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Socha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Jankowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,1,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1038\/ncpgasthep1179","article-title":"Mechanisms 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