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Cerebrotendinous xanthomatosis treated with chenodeoxycholic acid (MRI) (1)

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Baseline and 5-year follow-up axial, T2-weighted, brain MRI of the proband, a 32-year-old Japanese man with cerebrotendinous xanthomatosis treated with chenodeoxycholic acid. Serial brain MRI studies over this period revealed pronounced progressive atrophy in the cerebellum, in addition to expanding hyperintense lesions on T2-weighted images in the dentate nuclei, posterior limb of the internal capsule, cerebral peduncles, and inferior olives. (Source: Koyama S, Okabe Y, Suzuki Y, et al. Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report. BMC Neurol 2022;22[1]:193. Creative Commons Attribution 4.0 International License, http://creativecommons.org/licenses/by/4.0. Figure edited by Dr. Douglas J Lanska.)