Cholestasis in infants

Look for prolonged jaundice

Infants with jaundice may have cholestasis, a symptom of CTX

One of the earliest signs of cerebrotendinous xanthomatosis (CTX) is cholestasis, a condition caused by damaged flow of bile fluids in the body. Because cholestasis has many causes, and can sometimes resolve spontaneously, doctors may think of other conditions. However, in CTX, cholestasis typically only shows up during infancy.

  • If you notice prolonged jaundice in an infant, which is yellowing of the skin or whites of the eyes that doesn’t seem to go away, in addition to frequent diarrhea, talk to your doctor about testing for CTX immediately.
  • If prolonged jaundice showed up during infancy but ended up going away on its own, it still makes sense to talk to a doctor about testing for CTX especially if you notice other symptoms of CTX such as frequent diarrhea happening later in life.
Prolonged jaundice in CTX usually only appears during infancy—it may help to show doctors photos from this time.