Chronic diarrhea and juvenile cataracts: Think cerebrotendinous xanthomatosis and treat

Vladimir M. Berginer, Bella Gross, Khayat Morad, Nechama Kfir, Siman Morkos, Salameh Aaref, Tzipora C. Falik-Zaccai

Research output: Contribution to journalArticlepeer-review

71 Scopus citations


Cerebrotendinous xanthomatosis is an autosomal recessive disease of bile acid synthesis caused by 27-hydroxylase deficiency. Treatment with chenodeoxycholic acid normalizes cholestanol concentrations and abrogates progression of the disease. We present 4 patients with cerebrotendinous xanthomatosis within 1 family who were treated with chenodeoxycholic acid for 14 years. Two young sisters started treatment at the preclinical stage before the appearance of major symptoms. Their 2 older uncles, who had already developed the complete phenotypic form of cerebroten-dinous xanthomatosis when diagnosed, commenced treatment at the same time as the sisters, thus establishing a natural control group. After 14 years of chenodeoxycholic acid therapy, the cholestanol levels of all 4 patients decreased to normal levels( < 6 μ g/mL). Both sisters remained asymptomatic. Only moderate improvement in symptoms was observed in their uncles. In this long-term study, prompt preclinical administration of chenodeoxy-cholic acid in early childhood completely prevented the cerebrotendinous xanthomatosis phenotype in 2 sisters. Pediatricians should be aware of this diagnostic possibility of cerebrotendinous xanthomatosis in children presenting with chronic diarrhea and juvenile cataracts. Prevention is particularly significant in light of the availability of early genetic diagnosis and the devastating effects of this illness if not treated.

Original languageEnglish
Pages (from-to)143-147
Number of pages5
Issue number1
StatePublished - Jan 2009
Externally publishedYes


  • CDCA
  • CTX
  • CYP27A1 gene
  • Cerebrotendinous xanthomatosis
  • Cholestanol, chenodeoxycholic acid
  • Chronic diarrhea in infancy and childhood
  • Juvenile cataracts


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