A case of jaundice associated with hypertrophic pyloric stenosis carrying UGT1A1 polymorphism

Abstract

To demonstrate the UGT1A1 (TA)7 TAA polymorphism in a 45 day old boy with jaundice and recurrent vomiting 
caused by hypertrophic pyloric stenosis. A 45-day-old boy was brought to the emergency department with vomiting 
and jaundice. On admission, the baby was icteric and had weight lost. No evidence of infection and hemolysis. His 
thyroid function tests and all other biochemical tests were normal except for serum total bilirubin level which was 
measured as 9.82 mg/dl, with an unconjugated fraction as 9.05 mg/dl. DNA analysis was performed and the 
heterozygous (TA) 7TAA polymorphism was revealed in the bilirubin uridine diphosphate glucuronosyl transferase 
gene (UGT1A1) of the patient. Sonographic image revealed that hypertrophic pyloric stenosis. Ramsted 
pyloromyotomy was performed by pediatric surgery department. The jaundice disappeared within two days and the 
infant was discharged. We recommend that it is crucial step to care in a neonate with jaundice, recurrent vomiting 
and especially weight loss. Although hypertrophic pyloric stenosis and Gilbert Syndrome seem two different 
conditions, in selected patients more laboratory test should be obtained for differential diagnosis.