A Case of Gilbert's Syndrome with Severe Neonatal Hyperbilirubinemia.

Hong,  Ye Seul; Jin,  Jang Yong; Lee,  Woo Ryoung

doi:2010.17.2.266

Neonatal Med > Volume 17(2); 2010 > Article

Case Report

Journal of the Korean Society of Neonatology 2010;17(2):266-269.
DOI: https://doi.org/10.5385/jksn.2010.17.2.266 Published online November 15, 2010.

A Case of Gilbert's Syndrome with Severe Neonatal Hyperbilirubinemia.

Ye Seul Hong, Jang Yong Jin, Woo Ryoung Lee

Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea. neolee@schmc.ac.kr

Abstract

Gilbert's syndrome is caused by a reduction in the activity of uridine diphosphate glucuronosyltransferase (UGT) and induces chronic, non-hemolytic unconjugated hyperbilirubinemia. It has been suggested that 3-10% of the population has Gilbert's syndrome. Commonly, Gilbert's syndrome causes mild symptoms. However, a case of Gilbert's syndrome with severe neonatal hyperbilirubinemia is presented here. The patient developed jaundice three days after birth. Five days after birth, the patient's total serum bilirubin level was 34 mg/dL. The patient received intensive phototherapy and was given oral phenobarbital. Hemolytic hyperbilirubinemia was excluded on the basis of laboratory tests. Heterozygote polymorphisms of the promoter region (-3279T>G) and exon 1 (211G>A) were found in UGT1A1 gene. After discharge, the patient did not require any further treatment. This is the first case of proven Gilbert's syndrome with severe neonatal hyperbilirubinemia in Korea.