Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease

Excerpt

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease characterized by an increase in plasma concentrations of cholestanol and storage of sterols in multiple tissues, especially tendons and the nervous system [1]. Neonatal cholestatic jaundice has been rarely reported, but patients may progress to cirrhosis if effective treatment is not provided. Mutations in the CYP27A1 gene leads to decreased synthesis of bile acid, excessive production of cholestanol, and consequent accumulation of cholestanol in tissues in patients with CTX [2]. The liver is rarely affected in these patients; however, neonatal cholestatic jaundice can be self-limiting. Reports on liver transplantation for CTX are lacking. Liver transplantation not only cures the liver disease, but also introduces the normal CYP27A1 gene into the patient, which can be potentially beneficial. …