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Cerebrotendinous xanthomatosis treated with chenodeoxycholic acid (Serial Wechsler Adult Intelligence Scale-III scores)

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Serial Wechsler Adult Intelligence Scale-III scores in the proband and his younger sister. Legend: Thick solid line: verbal IQ (VIQ) in the proband; thick dashed line: VIQ in his younger sister; thin solid line: performance IQ (PIQ) in the proband; thin dashed line: PIQ in his younger sister. Although the verbal and performance IQ improved initially in the proband, this was not sustained. In contrast, verbal and performance IQ steadily improved over a 5-year period in the proband's younger sister, who had begun chenodeoxycholic acid therapy before her neurologic manifestations were as advanced as those of her older brother at presentation. (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.)