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Cerebrotendinous xanthomatosis with radiological abnormalities of the chest
  1. Yoshiaki Zaizen1,
  2. Masaki Tominaga1,
  3. Shuji Nagata2 and
  4. Tomoaki Hoshino1
  1. 1Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Fukuoka, Japan
  2. 2Department of Radiology, Kurume University School of Medicine, Kurume, Fukuoka, Japan
  1. Correspondence to Dr Yoshiaki Zaizen; zaizen_yoshiaki{at}


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 CYP27A1 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.

  • respiratory medicine
  • neurology

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  • Contributors YZ cared for the patient, performed a bronchoscopy and wrote the manuscript. MT cared for the patient and wrote a part of the manuscript. SN analysed the radiological findings and wrote a part of the manuscript. TH supervised and managed the patient’s care.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.