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

The objective of this study was to describe diarrhoea as a dominating symptom of cerebrotendinous xanthomatosis (CTX), a lipid storage disease, 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 cholestanol level, serum bile acid patterns and faecal bile acids were measured. All routine gastro‐intestinal investigations before therapy were normal. Diarrhoea ceased immediately after starting treatment with chenodeoxycholic acid. Abnormal bile alcohol excretion in urine decreased rapidly during the first days and elevated serum cholestanol level normalized in 2 years. We postulate the presence of bile alcohols in the lumen of the gut as most likely cause for diarrhoea in CTX, since the rapid decrease of bile alcohol excretion is associated with prompt cessation of diarrhoea after starting treatment with chenodeoxycholic acid.