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Cerebrotendinous xanthomatosis treated with chenodeoxycholic acid (SPECT)

Brain 99mTc-ethyl cysteinate dimer (99mTc-ECD) single photon emission computed tomography (SPECT) of the proband's younger sister, a 30-year-old Japanese woman with cerebrotendinous xanthomatosis treated with chenodeoxycholic acid. SPECT revealed mild frontoparietal hypoperfusion, without abnormal cerebellar hypoperfusion. (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.)

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