Cerebrotendinous xanthomatosis: Case report with evidence of oxidative stress

Luis F. Gonzalez-Cuyar, Brian Hunter, Peggy L.R. Harris, George Perry, Mark A. Smith, Rudy J. Castellani*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid synthesis, characterized by mutation in the mitochondrial enzyme 27-hydroxylase that leads to an accumulation of cholestanol and cholesterol. Characterized clinically by premature bilateral cataracts, slowly progressive neurological deterioration with dementia, cerebellar and brainstem signs, peripheral neuropathy, and seizures, the disease presents pathologically with lipid granulomata with foamy histiocytes and cholesterol clefts. Replacement therapy with chenodeoxycholic acid slows progression of the disease but does not reverse neurological deficits. Here, we present the case of a 49-year-old woman diagnosed at autopsy with cerebrotendinous xanthomatosis, on the basis of bilateral Achilles tendon granulomas, and typical foamy histiocytic infiltration of the brain, most severe in the dentate nucleus, and a typical clinical presentation. To investigate the pathological manifestations of this disease further, we performed immunohistochemistry for Nε-(carboxymethyl)-lysine, an indicator of oxidative damage, and found strong labeling of cytoplasmic material within histiocytes. In summary, this case of undiagnosed cerebrotendinous xanthomatosis during life emphasizes the need for a greater awareness of the disease, and early diagnosis and treatment. Further, the involvement of oxidative stress in cerebrotendinous xanthomatosis indicates that combined therapy with chenodeoxycholic acid and antioxidants may improve clinical outcome.

Original languageEnglish (US)
Pages (from-to)119-124
Number of pages6
JournalRedox Report
Issue number3
StatePublished - Jun 2007


  • 27-sterol hydroxylase
  • Carboxymethyl-lysine
  • Cerebrotendinous xanthomatosis
  • Oxidative stress

ASJC Scopus subject areas

  • Biochemistry
  • Physiology
  • Clinical Biochemistry
  • Cell Biology
  • Biochemistry, medical


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