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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal disease caused by pathogenic variants in the gene encoding sterol 27-hydroxylase (CYP27A1). It is generally diagnosed in adulthood; however, neonatal cholestasis that may be transient, severe, and even fatal is an early feature of CTX in a small subset of patients. Given the progressive nature of the neurological damage caused by the accumulation of 5α-cholestanol and cholesterol, early diagnosis is important to enable early treatment with primary bile acid therapy. The neonatal features of the disease, the approaches to diagnosis, and the comparative biochemical efficacy and merits of cholic and chenodeoxycholic acid therapies are described and reviewed. The outstanding safety profile of cholic acid and its similar effectiveness to chenodeoxycholic acid on key biochemical endpoints make it a suitable alternative to chenodeoxycholic acid for pediatric CTX, especially in infants.

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Cerebrotendinous Xanthomatosis (CTX) Presenting as Neonatal Cholestasis, Its Diagnosis and Treatment with Primary Bile Acids, Cholic and Chenodeoxycholic Acids

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  • 发表日期：

    2025年

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  • Kenneth D. R. Setchell,
  • Wujuan Zhang,
  • Jian-she Wang

摘要

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal disease caused by pathogenic variants in the gene encoding sterol 27-hydroxylase (CYP27A1). It is generally diagnosed in adulthood; however, neonatal cholestasis that may be transient, severe, and even fatal is an early feature of CTX in a small subset of patients. Given the progressive nature of the neurological damage caused by the accumulation of 5α-cholestanol and cholesterol, early diagnosis is important to enable early treatment with primary bile acid therapy. The neonatal features of the disease, the approaches to diagnosis, and the comparative biochemical efficacy and merits of cholic and chenodeoxycholic acid therapies are described and reviewed. The outstanding safety profile of cholic acid and its similar effectiveness to chenodeoxycholic acid on key biochemical endpoints make it a suitable alternative to chenodeoxycholic acid for pediatric CTX, especially in infants.