Abstract

Eylem Ulas Saz, Basak Yildiz, Asude Alpman, Huseyin Onay and Ferda Ozkinay

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.