Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment.
Eric P BrassBianca M L SteltenAad VerripsPublished in: JIMD reports (2020)
Chronic diarrhea persisting for years without spontaneous remission is a common feature of CTX at diagnosis. Chenodeoxycholic acid is an effective treatment for symptomatic relief of diarrhea in patients with CTX.