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Most reported patients with <jats:italic>CYP7B1<\/jats:italic> mutations presenting with liver disease in infancy have died of liver failure. However, it was recently reported that two patients treated with chenodeoxycholic acid survived. Correlations between the phenotype and genotype of <jats:italic>CYP7B1<\/jats:italic> deficiency have not been clearly established.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 5-month-7-day-old Chinese baby from non-consanguineous parents was referred for progressive cholestasis and prolonged prothrombin time from one month of age. Genetic testing revealed compound heterozygous mutations c.187C\u2009&gt;\u2009T(p.R63X)\/c.334C\u2009&gt;\u2009T(p.R112X) in <jats:italic>CYP7B1<\/jats:italic>, and fast atom bombardment mass spectrometry analysis of the urinary bile acid confirmed the presence of atypical hepatotoxic 3\u03b2-hydroxy-\u0394<jats:sup>5<\/jats:sup>-bile acids. While awaiting liver transplantation she was orally administered chenodeoxycholic acid. Her liver function rapidly improved, urine atypical bile acids normalized, and she thrived well until the last follow-up at 23\u00a0months of age. Her 15-year-old brother, with no history of infantile cholestasis but harboring the same mutations in <jats:italic>CYP7B1<\/jats:italic>, had gait abnormality from 13\u00a0years of age. Neurological examination revealed hyper-reflexia and spasticity of the lower limbs. Brain MRI revealed enlarged perivascular space in the bilateral basal ganglia and white matter of frontal parietal.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In summary, these findings highlight that the phenotype of <jats:italic>CYP7B1<\/jats:italic> deficiency varies widely, even in siblings and that early administration of chenodeoxycholic acid may improve prognosis.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12876-021-01749-x","type":"journal-article","created":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T16:35:31Z","timestamp":1618331731000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Successful treatment of infantile oxysterol 7\u03b1-hydroxylase deficiency with oral chenodeoxycholic acid"],"prefix":"10.1186","volume":"21","author":[{"given":"Yun-Ping","family":"Tang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing-Yu","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth D. 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The study conformed to the ethical guidelines of the Declaration of Helsinki 1975. Informed consent was obtained from the child\u2019s parents before the initiation of CDCA therapy.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient\u2019s parents provided informed written consent for this publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Setchell KDR is a consultant to Retrophin San Diego, United States, and holds minor equity in Asklepion Pharmaceuticals; Wang JS consulted for Shanghai Ethypharm. The other authors declare no conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"163"}}