Abstract

Progressive familial intrahepatic cholestasis [PFIC] refers to heterogeneous group of autosomal recessive disorders of childhood that disrupts bile formation and present with cholestasis of hepatocellular origin. The exact prevalence is unknown, but the estimated incidence varies from between 1/50,000 and 1/100,000. The following case highlights the importance of combined clinical, pathological and genetic approach to the diagnosis of PFIC. We report this 5-month-old male child, born of non-consanguineous marriage presented with lethargy, unable to take feeds and 1 episode of projectile vomiting since past 12 hours. On examination child was drowsy with paucity of movements of left upper and lowerlimb, right eye ptosis, child was pale and yellowish discoloration of body, liver span was around 9 cm. CT Scan was done suggestive of s/o right frontal -temporoparietal intracranial haemorrhage. Detailed investigations were done showed anaemia with direct hyperbilirubinemia with deranged PT-INR which was corrected after giving vitamin K. Rest of the liver parameters including GGT was normal. Mother was giving strong history of previous child death at the age of 11 months due to some liver disease. PFIC was considered as one of the differentials. Liver biopsy showed ballooning degeneration and cholestasis, bile plugging in bile canaliculi seen, mild portal fibrosis seen with dilatation of central vein noticed s/o PFIC.Genetic work up was sent which confirmed diagnosis of PFIC type -2.

Keywords: PFIC, gene, pruritus, cholestasis, jaundice.