NIH

Zebra of the Week: Cerebrotendinous xanthomatosis

March 11, 2025

Cerebrotendinous xanthomatosis, also known as cholestanol storage disease, is clinically characterized by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement, and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs.

Symptoms may include diarrhea, cataracts, tendinopathy, epilepsy, movement disorders, dysarthria, peripheral neuropathy, dementia, hallucinations, depression, and osteoporosis. Patients with cerebrotendinous xanthomatosis may have an increased risk of developing heart or lung failure due to lipid accumulation. The condition, caused by genetic changes in the CYP27A1 gene, affects fewer than 50,000 people in the U.S.

FDA recently approved Ctexli (chenodiol) for the treatment of cerebrotendinous xanthomatosis in adults.

Source:

NIH GARD. (Accessed 2025, March 10). Cerebrotendinous xanthomatosis. https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis