Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid.

Objectives: To describe long-term follow-up brain MRI findings in patients with cerebrotendinous xanthomatosis (CTX) treated with chenodeoxycholic acid (CDCA).

Methods: Of a cohort of 79 Dutch patients with CTX, we retrospectively reviewed brain MRI findings of patients at diagnosis (before the start of treatment) and after long-term follow-up (7-27 years) in 12 patients. In addition, we report on 2 families with remarkable brain MRI findings.