Neonatal Cholestasis

Neonatal cholestasis may be one of the earliest signs of CTX^1,2

Many of the signs and symptoms of CTX become evident in childhood or adulthood. However, the CYP27A1 mutation may present as cholestatic liver disease early in the course of the disease.¹

Prolonged, unexplained neonatal jaundice or cholestasis should be considered as a strong indicator of CTX and should be assessed accordingly.³

In a retrospective evaluation of 55 CTX patients, 8 patients (15%) had a history of unexplained neonatal cholestatic jaundice.⁴

Because neonatal cholestasis in CTX may resolve spontaneously, the diagnosis may be missed^4,5

However, neonatal cholestasis in CTX can be severe, resulting in liver transplant, or death.^2,5