Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome.
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.
Paediatrics Department, Good Hope Hospital, Birmingham, West Midlands, UK. aqt.ismail@bnc.oxon.org
Abdul Qader Tahir
AQ
Ismail
Anjum
A
Gandhi
Nagui
N
El-Shimy
D003937:Diagnosis, Differential; D005260:Female; D018757:GABA Modulators / Q000627:therapeutic use; D005878:Gilbert Disease / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D010634:Phenobarbital / Q000627:therapeutic use; D013103:Spherocytosis, Hereditary / Q000150:complications* / Q000175:diagnosis
D018757:GABA Modulators; D010634:Phenobarbital