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Case Reports
. 2017 Jul;11(7):OD05-OD06.
doi: 10.7860/JCDR/2017/28195.10221. Epub 2017 Jul 1.

Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults

Prabhat Kumar  1 , Gargi Sasmal  2 , Shreya Gupta  2 , Renu Saxena  3 , Sudha Kohli  3
Affiliations
Case Reports

Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults

Prabhat Kumar et al. J Clin Diagn Res. 2017 Jul.

Abstract

Crigler Najjar Syndrome (CNS) Type 2 is an uncommon genetic disorder characterised by non-haemolytic unconjugated hyperbilirubinemia. It is caused by mutations in the UGT1A1 gene which codes for the enzyme uridine diphosphate glucoronosyl transferase- 1, required for the conjugation and further excretion of bilirubin from the body. Affected individuals are usually asymptomatic apart from the jaundice and investigations reveal isolated indirect hyperbilirubinemia. It can be conveniently diagnosed by evaluating the response to phenobarbitone in terms of fall in bilirubin levels. Genetic testing of the UGT1A1 gene for mutations is the diagnostic clincher. However, case reports documenting the genetic mutational analysis are sparse. We report one such rare case.

Keywords: Gilbert’s syndrome; Isolated indirect hyperbilirubinemia; Phenobarbitone.

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Figures

[Table/Fig-1]:
[Table/Fig-1]:
Significant fall in bilirubin levels following initiation of treatment with phenobarbitone.
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