P324 Severe celiac disease presented as acute on chronic liver failure

Abstract

Aim Our aim is to present the case of an Irish neonate who presented to our Paediatric Department with prolonged hyperbilirubinemia as a consequence of breast milk quality and Gilbert's Mutation (UGT1A1*28 mutation). Methods We describe the clinical features, course of illness and haematological findings, management and the challenges of same and in addition the outcome to date in our patient. Results An Irish male neonate of non-consanguineous union, with gestation of 36 weeks, unremarkable perinatal history, exclusively breast fed, first came to medical attention at third day of life with DCT-negative unconjugated hyperbilirubinemia requiring phototherapy for two days. He represented with increased bilirubin levels again 3 days later and again at two weeks of age, each time necessitating phototherapy. Systemic examination was normal. Thyroid & liver function tests, full blood count, urine culture, urine for cytomegalovirus and toxicology screen, lactate dehydrogenase were normal. He was fed exclusive expressed breast milk by bottle and was observed to have high volume intake of 275 ml/kg/day, with overfeeding resulting in vomiting. By 5 weeks of age, he had not regained his birthweight and had dropped from the 25-50 th to the 0.4 th centile. On further work up, his screen for Hereditary Spherocytosis was negative, haptoglobin was low <0.10 g/L, liver ultrasound scan was normal. His UGT1A1 enzyme levels were sent the results showed that he was heterozygote for UGT1A1*28 mutation, indicating carrier status for Gilbert's Syndrome.Breastfeeding was discontinued, and his weight and hyperbilirubinaemia improved dramatically. Conclusion Breast-feeding jaundice is traditionally considered as a consequence of inadequate supply, with breast-milk jaundice secondary to increased recirculation of bilirubin due to deconjugating breast-milk enzymes. This case was unusual in that supply was established to be adequate, rather the nutritional quality of the breast-milk was theorised to be suboptimal, secondary to severe social stressors affecting mother. This, in combination with Gilbert's syndrome status, resulted in moderate prolonged unconjugated hyperbilirubinaemia and failure to thrive in this infant.It may be helpful forPaediatricians to maintain an index of clinical suspicion for the mutation in children with refractory prolonged unconjugated hyperbilirubinemia. We rarely advocate breast-feeding discontinuation, however in this instance it resulted in dramatic clinical improvement of this infant's condition.