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BMJ Case Reports 2011; doi:10.1136/bcr.05.2011.4293
  • Unusual association of diseases/symptoms

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

  1. Nagui El-Shimy
  1. Paediatrics Department, Good Hope Hospital, Birmingham, West Midlands, UK
  1. Correspondence to Dr Abdul Qader Tahir Ismail, aqt.ismail{at}bnc.oxon.org

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.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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