Spinal cerebrotendinous xanthomatosis: A case report and literature review

Isis Atallah,Diego San Millán, Wicki Benoît,Belinda Campos-Xavier,Andrea Superti-Furga,Christel Tran

Molecular Genetics and Metabolism Reports（2021）

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摘要

•Cerebrotendineous xanthomatosis (CTX) is an inborn error of bile acid metabolism•Diagnosis of CTX is delayed in patients with spastic paresis without xanthomas•Treatment with chenodeoxycholic acid may improve symptoms and disease prognosis•However, abrupt treatment interruption might lead to severe disease progression

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关键词

Cerebrotendinous xanthomatosis,Spinal,Medullar,Clinical,Chenodeoxycholic acid,Genetic,CTX

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