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Unusual association of diseases/symptoms
Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert’s syndrome

Summary

In this article the authors present a case of pathological neonatal jaundice resistant to phototherapy in a baby with a family history of Gilbert’s syndrome and hereditary spherocytosis. Her presentation was ultimately explained with a diagnosis of both conditions, and required treatment with phenobarbitone. The authors discuss the mechanism by which Gilbert’s syndrome results in hyperbilirubinaemia and its similarities with Crigler–Najjar syndrome. The presentation of hereditary spherocystosis in the neonatal period is also explored, as is the mechanism of exaggerated hyperbilirubinaemia when the two conditions co-exist.

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