Frequent diarrhea

Unexplained diarrhea with other uncommon symptoms could be an early sign of cerebrotendinous xanthomatosis (CTX)

Consider testing children with constant diarrhea for CTX

Diarrhea is a condition in which a person has loose, watery stools that happen 3 or more times in 1 day. It’s a common problem caused by infections, food poisoning, digestive problems, and side effects of medicines.

In people with CTX, diarrhea is a sign of something different.

  • It’s not short-lived nor does it go away and diarrhea can seem like it is non-stop.
  • About 50% of people with CTX experienced constant diarrhea as babies or young children, making frequent diarrhea one of the earliest and most common symptoms of CTX.
  • Diarrhea during childhood with no other symptoms is typically not enough to suspect CTX.

Frequent diarrhea can lead doctors to suspect many other conditions—both common and uncommon. For example, frequent diarrhea at a young age can lead a doctor to think of child irritable bowel syndrome. However, if the suspected diagnosis of child irritable bowel syndrome was seen with neurological problems, then something else is likely going on. Make sure to consider the age and look for other symptoms that may reveal CTX.

Infant or child with frequent diarrhea and prolonged jaundice

It can be difficult to spot unusual diarrhea in infants and newborns. Stools are typically soft and loose, and bowel movements can happen frequently. But if the diarrhea continues and you notice prolonged jaundice, which is yellowing of the skin or in the whites of the eyes, it may be CTX.

Child or teenager with history of frequent diarrhea and blurry vision

In CTX, frequent diarrhea can continue into childhood. By this time, a doctor may have looked into the cause and provided a possible diagnosis or may still be left without answers. The child may have adjusted to frequent diarrhea as being a normal part of life. However if you find the child begins to also experience problems in school caused by blurry vision or neurological problems, such as behavioral problems, learning difficulties, or inability to practice self-care appropriate for the child's age, it may be CTX.

Child or teenager with history of constant diarrhea and cataracts in both eyes

In some people with CTX, blurry vision led to a visit with an eye doctor (eg, optometrist, ophthalmologist). During examination, these doctors found cataracts in both eyes (bilateral cataracts). This is unusual at early ages in any person, and when combined with a history of constant diarrhea, is especially concerning. Because early cataracts in both eyes are a clue it might be CTX, talk to a doctor about testing for CTX immediately.

Don't delay testing when you see frequent diarrhea coupled with other symptoms such as neurological problems, or blurry vision caused by cataracts in both eyes at an early age.