title: A Child with Debilitating Pruritus.
abstract: We describe a case of two-year-old boy presenting with debilitating pruritus, patchy alopecia and jaundice since the age of 6 months. On evaluation he had intrahepatic cholestasis with persistently raised serum alkaline phosphatase, normal Gamma glutamyl transferase and raised serum bile acid levels. His liver biopsy showed bland cholestasis and electron microscopy showed granular bile suggestive of progressive familial intrahepatic cholestasis type I. Medical therapy with ursodeoxycholic acid, cholestyramine, rifampicin with nutritional modification was successful in alleviating the symptoms and correcting the nutritional status. To our knowledge this is only the sixth case of progressive familial intrahepatic cholestasis type I reported from India. Herein we discuss the diagnostic and therapeutic hurdles that one encounters in managing progressive familial intrahepatic cholestasis and also review the literature regarding this rare disorder.
authors.affiliation: Department of Gastroenterology; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.
authors.forename: Nikhil
authors.initials: N
authors.lastname: Sonthalia
authors.affiliation: Department of Gastroenterology; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.
authors.forename: Samit S
authors.initials: SS
authors.lastname: Jain
authors.affiliation: Department of Gastroenterology; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.
authors.forename: Vinay B
authors.initials: VB
authors.lastname: Pawar
authors.affiliation: Department of Gastroenterology; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.
authors.forename: Vinay G
authors.initials: VG
authors.lastname: Zanwar
authors.affiliation: Department of Gastroenterology; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.
authors.forename: Ravindra G
authors.initials: RG
authors.lastname: Surude
authors.affiliation: Department of Gastroenterology; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.
authors.forename: Pravin M
authors.initials: PM
authors.lastname: Rathi
authors.affiliation: Department of Pediatric Medicine; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.
authors.forename: Kshitij K
authors.initials: KK
authors.lastname: Munde
authors.affiliation: Department of Pediatric Medicine; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.
authors.forename: Sandeep
authors.initials: S
authors.lastname: Bavdekar
keywords: Progressive familial intrahepatic cholestasis; alopecia; bland cholestasis; granular bile; pruritus