A rare case of Crigler–Najjar syndrome type 2: A case report and literature review

Author:

Rijal Divas1ORCID,Rijal Prabhat2ORCID,Bohare Shyam Murti2,Chaudhari Ashish Sanjay2,Dhungel Mandip3,Agarwal Mayank2,Bhatta Pramish4,Dhakal Tulsi Ram4,Bishwokarma Anjali4,Kafle Pooja1

Affiliation:

1. Department of Critical Care medicine Tribhuvan University Teaching Hospital, Maharajgunj Medical Campus Kathmandu Nepal

2. Department of Internal Medicine All India Institute of Medical Sciences Rishikesh Uttarakhand India

3. Nepalgunj Medical College Nepalgunj Nepal

4. Tribhuvan University Teaching Hospital, Maharajgunj Medical Campus Kathmandu Nepal

Abstract

Key Clinical MessageCrigler–Najjar syndrome type 2 should be suspected in any young patient presenting with isolated indirect hyperbilirubinemia where all other common etiologies have been excluded. It is a relatively benign condition that responds to phenobarbitone.AbstractCrigler–Najjar syndrome (CNS) type 2 is an inborn cause of isolated indirect hyperbilirubinemia characterized by a partial deficiency of the enzyme uridine 5′‐diphosphate‐glucuronosyltransferase (UGT) responsible for bilirubin conjugation. Typically, this condition is diagnosed based on clinical manifestations, supplemented by enzyme analysis if feasible, and exhibits a significant response to phenobarbitone, known for its enzyme‐inducing properties. In this case, we present a young male patient who had experienced recurrent isolated indirect hyperbilirubinemia since early childhood, with negative results in the hemolytic workup. The patient exhibited a UGT1A1 gene defect and demonstrated a highly favorable response to phenobarbitone treatment. The purpose of this report is to raise awareness among physicians about this benign condition and underscore the importance of avoiding unnecessary investigations.

Publisher

Wiley

Subject

General Medicine

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