Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome

BMJ Case Rep. 2011 Jul 28:2011:bcr0520114293. doi: 10.1136/bcr.05.2011.4293.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Female
  • GABA Modulators / therapeutic use
  • Gilbert Disease / complications*
  • Gilbert Disease / diagnosis
  • Humans
  • Infant, Newborn
  • Jaundice, Neonatal / diagnosis
  • Jaundice, Neonatal / drug therapy
  • Jaundice, Neonatal / etiology*
  • Phenobarbital / therapeutic use
  • Spherocytosis, Hereditary / complications*
  • Spherocytosis, Hereditary / diagnosis

Substances

  • GABA Modulators
  • Phenobarbital