Marianne Samyn, Giorgina Mieli Vergani
Liver disease in infancy is a relatively rare but serious cause of morbidity and mortality. Since jaundice is a common finding in the neonatal period, the immediate priority is to differentiate between unconjugated hyperbilirubinaemia, which is generally a benign developmental phenomenon, and conjugated hyperbilirubinaemia (conjugated fraction >20%), which is always pathological. Conjugated hyperbilirubinaemia, suggested by yellow urine and stools that are not yellow or green in an infant of any age, is pathognomonic of liver parenchymal or bile duct disease and warrants prompt investigation because some of its causes require urgent treatment; genetic counselling may also be required.
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