{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:40:09Z","timestamp":1756312809406,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,6,25]]},"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:p>A 55-year-old man with mental retardation and calcaneal tendon thickening was referred for a suspected genetic disease. His serum cholestanol was elevated and genetic analysis of his blood cells for <jats:italic>CYP27A1<\/jats:italic> revealed a homozygous missense mutation. We diagnosed him with cerebrotendinous xanthomatosis (CTX). Chest radiography revealed diffuse micronodular and reticular opacities. Histological findings obtained from the transbronchial lung biopsy revealed foamy macrophages and multinucleate giant cells with marked lipid crystal clefts. Although there are few reports of pulmonary lesions in CTX, we concluded from the radiological and histopathological findings that the pulmonary lesions were indeed caused by the CTX. The patient was treated with chenodeoxycholic acid. His neurological findings and calcaneal tendon thickening were unchanged; however, his serum cholestanol and radiological abnormalities of the chest decreased.<\/jats:p>","DOI":"10.1136\/bcr-2021-243715","type":"journal-article","created":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T12:08:44Z","timestamp":1630670924000},"page":"e243715","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Cerebrotendinous xanthomatosis with radiological abnormalities of the chest"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2274-4599","authenticated-orcid":false,"given":"Yoshiaki","family":"Zaizen","sequence":"first","affiliation":[{"name":"Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Tominaga","sequence":"additional","affiliation":[{"name":"Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuji","family":"Nagata","sequence":"additional","affiliation":[{"name":"Department of Radiology, Kurume University School of Medicine, Kurume, Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoaki","family":"Hoshino","sequence":"additional","affiliation":[{"name":"Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,9,3]]},"reference":[{"key":"2025082709100476000_14.9.e243715.1","doi-asserted-by":"crossref","first-page":"7779","DOI":"10.1016\/S0021-9258(20)89518-0","article-title":"Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis","volume":"266","author":"Cali","year":"1991","journal-title":"J Biol Chem"},{"key":"2025082709100476000_14.9.e243715.2","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/s10038-017-0389-4","article-title":"Nationwide survey on cerebrotendinous xanthomatosis in Japan","volume":"63","author":"Sekijima","year":"2018","journal-title":"J Hum Genet"},{"key":"2025082709100476000_14.9.e243715.3","doi-asserted-by":"crossref","unstructured":"Diallo M , Tour\u00e9 M , Diop A . 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