Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation

BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a progressive neurometabolic disorder, and chenodeoxycholic acid (CDCA) is the primary treatment that effectively prevents disease progression. However, using CDCA during pregnancy presents clinical challenges due to limited safety data and theoretical concerns about fetal teratogenicity. OBJECTIVE This study aims to evaluate maternal and neonatal outcomes in genetically confirmed CTX pregnancies and to assess the safety profile of CDCA when used during pregnancy. METHODS This retrospective, multicenter study included 19 pregnancies in 12 women with CTX. Data were collected on maternal neurological status, pregnancy outcomes, neonatal characteristics, and long-term offspring development. CDCA treatment status during pregnancy was documented, and outcomes were compared. RESULTS Of the 19 pregnancies, 16 resulted in live births (84.2%), whereas 3 ended in spontaneous abortions—all in a single undiagnosed patient. Among the 5 pregnancies with a prior CTX diagnosis, 4 were treated with CDCA during gestation. No maternal neurological deterioration or fetal malformations were observed in CDCA-treated pregnancies. In contrast, adverse findings, including neurological decline in 1 mother, a case of spina bifida, and cognitive impairment in offspring, were limited to pregnancies without CDCA treatment. No fetal or neonatal complications suggestive of CDCA-related toxicity were detected. CONCLUSION Our findings support evidence that continuing CDCA therapy during pregnancy in women with CTX is associated with favorable maternal and fetal outcomes, with no clear indications of teratogenicity. Maintaining CDCA treatment appears to contribute to maternal neurological stability.