L1 An unusual presentation of Gilbert’s Syndrome in a neonate

• Published in: Frontline gastroenterology 2022-04, Vol.13 (Suppl 1), p.A46-A46
• Main Authors: Findlay, Alice, Menakaya, Jide
• Format: Article
• Language: English
• Subjects: Light therapy; Liver
• ISSN: 2041-4137; 2041-4145
• DOI: 10.1136/flgastro-2022-bspghan.64

IntroductionProlonged jaundice is a common clinical presentation, of which the vast majority of children will be found to have a benign unconjugated hyperbilirubinemia. However, a small group of children will be found to have underlying conditions which may need further investigation and management.Gilbert’s syndrome is considered to be a benign condition associated with intermittent and asymptomatic episodes of jaundice secondary to a mild unconjugated hyperbilirubinaemia commonly noted in times of stress, dehydration, or illness. It is not usually noted to cause significant hyperbilirubinaemia, and does not routinely require treatment.History and PresentationA term 29-day old baby boy presented to Prolonged Jaundice clinic for review and was found to be significantly jaundiced with a bilirubin on blood gas of 617 mmol/litre (and unable to be plotted on the standard NICE bilirubin chart). He was immediately referred to Paediatric A&E where this was confirmed on formal laboratory serum bloods where it was also established that it was mostly unconjugated.Despite his age, he was started on 5 phototherapy lights and screened for sepsis. On examination, he was clinically well despite the generalised jaundice, with no evidence of encephalopathy or dysmorphic features, and was noted to have pigmented stools. There were no concerns regarding his feeding or growth, nor was there any significant family history of any medical issues and his parents were non-consanguineous.Treatment and InvestigationThe bilirubin levels were noted to be responsive to the phototherapy, and so the lights were able to be weaned down relatively quickly, although it was noted that the bilirubin levels would rapidly rise each time the phototherapy was stopped, therefore requiring intermittent treatment with phototherapy.Abstract L1 Figure 1Graph to show the levels of bilirubin fluctuating during his admissionA trial of exclusive formula feeds was started, but his bilirubin levels continued to rise without any breastmilk. After discussion with the local tertiary liver centre, he was also started on a regular dose of phenobarbitone.An ultrasound scan of his abdomen showed no abnormality. His other liver function tests were normal, and a screen for G6PD, hepatitis, infections, and other first line tests for unconjugated hyperbilirubinaemia were all normal. Genetic tests were also sent for Criggler-Najjar syndrome and Gilbert’s syndrome, for which he was found to be homozygous for the c.-41_-4