Ittero neonatale prolungato: a volte è solo questione di tempo

HF is a full-term newborn, third child of consanguineous parents from Bangladesh. In good general health at birth, she developed significant hyperbilirubinemia within the first 48 hours of life and required phototherapy (PT), with a total of nine treatment cycles needed. As jaundice persisted for over 2 weeks, first-level laboratory and imaging investigations were performed to exclude cholestatic, metabolic and/or infectious causes and their results were normal. Given the negative findings, the persistence of jaundice and the parents’ consanguinity, a genetic analysis was performed and showed two monoallelic variants in the UGT1A1 gene, potentially associated with transient familial neonatal hyperbilirubinemia. Subsequently, bilirubin levels spontaneously normalised by 3 months of age, as showed by the molecular analysis. The described case highlights the need for a systematic diagnostic approach in prolonged jaundice, the added value of genetic testing for clarifying the cause of unclear clinical presentations and provides useful information for pre-conception genetic counselling.