CHRONIC DIARRHEA AS A DOMINATING SYMPTOM IN 2 CHILDREN WITH CEREBROTENDINOUS XANTHOMATOSIS

The objective of this study was to describe diarrhoea as a dominating symptom of cerebrotendinous xanthomatosis (CTX), a lipid storage disea se, and investigate its cause. Two children with chronic diarrhoea as the dominating symptom of CTX are presented. Before and after therapy with orally administered chenodeoxycholic acid (15 mg kg(-1) 24 h, in three divided doses) bile alcohol excretion in urine, serum cholestano l level, serum bile acid patterns and faecal bile acids were measured. All routine gastro-intestinal investigations before therapy were norm al. Diarrhoea ceased immediately after starting treatment with chenode oxycholic acid. Abnormal bile alcohol excretion in urine decreased rap idly during the first days and elevated serum cholestanol level normal ized in 2 years. We postulate the presence of bile alcohols in the lum en of the gut as most likely cause for diarrhoea in CTX, since the rap id decrease of bile alcohol excretion is associated with prompt cessat ion of diarrhoea after starting treatment with chenodeoxycholic acid.