Symptoms of CTX vary depending on the age of the patient, and the severity of the condition.
For infants and children, symptoms may include:
- Chronic diarrhea during infancy
- Cataracts in late childhood
- Frequent bone fractures due to brittle bones
When a patient with CTX enters into adulthood, they may begin to notice the following neurological symptoms:
- Difficulty with coordination
- Difficulty with speech
The fatty deposits can also result in cardiovascular disease or stroke if they limit or block the blood flow to the heart or brain.
Causes and Risk Factors
Cerebrotendinous xanthomatosis is caused by a change in the CYP27A1 gene, which is involved in the production of an enzyme that breaks down cholesterol.
The condition is inherited, and both parents need to pass on the genetic abnormality in order for their child to have the condition. If the child only receives one copy of the abnormal gene then they are a carrier for CTX but will not have any symptoms.
The condition is rare and occurs in an estimated 3 to 5 out of every 100,000 people. The condition affects all genders and ethnicities; however, it is most common in the Moroccan Jewish population.