Neonatal jaundice is very common and in the majority of the cases is physiological. In some rare situation jaundice can be secondary to haemolysis, sepsis, Rh incompatibility, liver enzyme deficiency or anatomical liver and bile duct pathology. Non physiological jaundice is a neonatal emergency since patients tend to be haemodynamically unstable and in risk of brain injury.
Case: Five day old girl, born at 39+3 weeks with a birth weight of 2.45kg, was referred by the community midwife to the acute paediatric services due to jaundice. No risk factors of infection in the perinatal period. On arrival she looked jaundice, had an SBR of 515micromol/L and she was started on triple phototherapy. At the same time she had blood tests done including FBC, clotting, liver and renal function tests, blood cultures, CRP, GAL-1-PU, ammonia, acylcarnitine, DAT, blood group T and was started on antibiotics and antiviral to cover for possible infection. She was on liver failure with deranged LFT’s and clotting function including INR: 4.6, PT: 53.8s, ALP: 1065u/l , lab uncong Bili :372 with congBili: 52 WCC: 11.6x 10^9/L. Was kept on intravenous 10% Dextrose, nil by mouth, had 3 doses of Vitamin K, 2doses of FFP and coagulation improved. When she was haemodynamically stable an urgent transfer was arranged to a paediatric liver unit hospital. While in the liver hospital she got a diagnosis of galactosaemia and further genetic testing was done which confirmed parents being carriers of the disease, confirming the autosomal recessive nature of the disease. There was no evidence of cataracts at her ophthalmology follow up. Currently she is on 4 hourly soy milk feeds and growing well with normal development.