Publication:

Progressive familial intrahepatic cholestasis-2 and concomitant cytomegalovirus infection in an infant: a case report

Conjugated hyperbilirubinemia (CH) in infancy can have anatomic, infectious, auto-immune and metabolic causes. We reported a case of CH presented at 2 months and 20 days, with clinical jaundice and evidence of acute on chronic liver failure. Significant history of elder sibling death at the age of 5 months due to hepatic failure and intracranial bleed was present. Investigations revealed a normal gamma glutamyl transpeptidase (GGT) levels. Toxoplasmosis, rubella, cytomegalovirus and herpes simplex (TORCH) panel showed cytomegalovirus (CMV) immunoglobulin M (IgM), immunoglobulin G (IgG) and deoxyribonucleic acid polymerase chain reaction (DNA PCR) positive with mother’s serum CMV IgG, so she was started on oral valganciclovir in addition to other treatment for cholestasis. A clinical exome panel was also sent which showed homozygous two base-pair deletion in exon 27 of the ABCB11 gene [c.3659 3660del (p.Ser1220Ter)] suggestive of benign recurrent intrahepatic cholestasis (BRIC)/progressive familial intrahepatic cholestasis-2 (PFIC-2). The child responded initially to treatment showing reduced serum conjugated bilirubin level and near normalization of INR. However, she was re-admitted with deranged coagulation profile and rising conjugated bilirubin levels after 30 days of discharge and expired due to fulminant hepatic failure with encephalopathy at 6 months of age while she was being prepared for live donor (father) liver transplantation. We presented this case because we found evidence of CMV infection in a child with PFIC-2. The relative contribution of either aetiology needs to be ascertained in view of early recurrence of CH despite standard management protocol including oral valgancyclovir for CMV infection.