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Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis

A F van Heijst1, R A Wevers, A Tangerman

  • 1Department of Paediatrics, University Hospital Nijmegen St Radboud, The Netherlands.

Acta Paediatrica (Oslo, Norway : 1992)
|August 1, 1996
PubMed

Insights

Diarrhoea in cerebrotendinous xanthomatosis (CTX) is caused by bile alcohols. Treatment with chenodeoxycholic acid rapidly resolves diarrhoea and normalizes lipid levels in this rare lipid storage disease.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations in the CYP27B1 gene.
  • CTX is characterized by the accumulation of cholestanol and 24-hydroxycholesterol in various tissues, leading to neurological and other systemic manifestations.
  • Gastrointestinal symptoms, particularly chronic diarrhoea, are not typically considered a primary or dominating symptom of CTX.

Observation:

  • Two pediatric patients presented with chronic diarrhoea as the predominant symptom of CTX.
  • Standard gastrointestinal investigations yielded normal results in both patients prior to specific treatment.
  • Patients received oral chenodeoxycholic acid (CDCA) therapy at a dosage of 15 mg/kg/24 h, divided into three doses.

Findings:

  • Diarrhoea resolved immediately upon initiation of CDCA treatment.
  • Abnormal urinary bile alcohol excretion decreased rapidly within days of starting CDCA.
  • Elevated serum cholestanol levels normalized over a two-year treatment period.

Implications:

  • This study suggests that elevated bile alcohol levels in the gut lumen are a likely cause of diarrhoea in CTX.
  • The prompt cessation of diarrhoea following CDCA administration supports the proposed mechanism.
  • These findings highlight the importance of considering CTX in pediatric patients with unexplained chronic diarrhoea and abnormal lipid profiles.

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