Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2), the most severe phenotype associated with ABCB11/BSEP deficiency, is a rare autosomal recessive disease with a frequency estimated at around 1/100,000 births [1,2,3,4]. This evidence concerns the gene ABCB11 and progressive familial intrahepatic cholestasis type 2.