Progressive intrahepatic cholestasis type 2 and citrin deficiency with a novel mutation: a case report

Abstract

Citrin deficiency is a rare metabolic disorder which can lead to three clinical phenotypes. Herein, the authors describe a rare case of association between intrahepatic progressive familial cholestasis type 2 (PFIC2) and citrin deficiency with a novel mutation. A one-month-old male infant was referred to explore a prolonged jaundice. Molecular studies (next-generation DNA sequencing NGS) revealed a mutation of BSEP gene (ABCB11) and a pathogenic homozygous mutation in SLC25A13 gene encoding citrin. This identified mutation hasn't been described yet in the literature.