ObjectivesTo describe long-term follow-up brain magnetic resonance (MRI) findings in patients with cerebrotendinous xanthomatosis (CTX) treated with chenodeoxycholic acid (CDCA).MethodsOut of a cohort of 79 Dutch CTX patients, we retrospectively reviewed brain MRI findings of patients at diagnosis (before 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.ResultsMRI abnormalities showed progression in all 7 patients diagnosed at 24 years or older, and only in 1 out of 5 patients diagnosed < 24 years. MRI in the other patients diagnosed < 24 years were normal at baseline and remained normal even after follow-up of more than 25 years. Total MRI scores at baseline were 2 respectively 19, and at follow-up 4 respectively 37, for patients diagnosed before or after the age of 24 years, despite comparable number of treatment years.Discussion MRI findings are fully in line with our long-term treatment effect paper, emphasizing the importance of early diagnosis and treatment in CTX. Expanding the spectrum of brain MRI findings (including the finding of a ‘posterior leukoencephalopathy’) leads to a better understanding of the heterogeneity of this treatable disease.

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