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A Child with Debilitating Pruritus

Nikhil Sonthalia1, Samit S Jain1, Vinay B Pawar1

  • 1Department of Gastroenterology; Topiwala National Medical College and BYL Nair Ch Hospital , Mumbai, Maharashtra, India.

Clinics and Practice
|December 29, 2016
PubMed

Insights

A rare case of progressive familial intrahepatic cholestasis type I (PFIC I) in a two-year-old boy was successfully managed with medical therapy. This Indian case highlights diagnostic and therapeutic challenges in treating this rare liver disorder.

Area of Science:

  • Hepatology
  • Pediatric Gastroenterology
  • Medical Genetics

Background:

  • Progressive familial intrahepatic cholestasis type I (PFIC I) is a rare genetic disorder affecting bile flow.
  • Early diagnosis and management are crucial for improving patient outcomes.
  • Limited case reports exist, particularly from India, necessitating further documentation.

Keywords:
Progressive familial intrahepatic cholestasisalopeciabland cholestasisgranular bilepruritus

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