European Journal of Pediatrics

, Volume 168, Issue 4, pp 427–429 | Cite as

Normal neurological outcome in two infants treated with exchange transfusions born to mothers with Crigler-Najjar Type 1 disorder

  • Simon HannamEmail author
  • Paul Moriaty
  • Helen O’Reilly
  • John S. Craig
  • Michael A. Heneghan
  • Alastair Baker
  • Anil Dhawan
Original Paper


Patients with Crigler-Najjar Type 1 (CN-1) disorder have an unconjugated hyperbilirubinaemia due to the complete absence in activity of uridinediphosphate glucuronosyltransferase, a bilirubin-conjugating enzyme. In pregnant women with CN-1, the foetus is at high risk of being adversely affected by the bilirubin, as unconjugated bilirubin can cross the placenta and is potentially neurotoxic. We report the long-term outcomes of two infants born to women with CN-1. These infants had exchange transfusions soon after birth and have normal neurodevelopmental outcomes at 18 months and four years of age, respectively. We propose that this intervention might have improved the neurological outcome of these infants.


Jaundice Kernicterus Bilirubin Unconjugated Neurodevelopment 



Crigler-Najjar Type 1


Uridinediphosphate glucuronosyltransferase


Packed cell volume


Automated auditory brainstem response


Magnetic resonance image


  1. 1.
    Crigler JF Jr, Najjar VA (1952) Congenital familial nonhemolytic jaundice with kernicterus. Pediatrics 10:169–180PubMedGoogle Scholar
  2. 2.
    Gajdos V, Petit F, Trioche P, Mollet-Boudjemline A, Chauveaud A, Myara A, Trivin F, Francoual J, Labrune P (2006) Successful pregnancy in a Crigler-Najjar type I patient treated by phototherapy and semimonthly albumin infusions. Gastroenterology 131:921–924. DOI  10.1053/j.gastro.2006.07.005 PubMedCrossRefGoogle Scholar
  3. 3.
    Hansen TWR (2001) Bilirubin brain toxicity. J Perinatol 21:S48–S51. DOI  10.1038/ PubMedCrossRefGoogle Scholar
  4. 4.
    Katar S, Akay HO, Taskesen M, Devecioglu C (2008) Clinical and cranial magnetic resonance imaging (MRI) findings of 21 patients with serious hyperbilirubinemia. J Child Neurol 23:415–417. DOI  10.1177/0883073807309780 PubMedCrossRefGoogle Scholar
  5. 5.
    McDonagh AF (2007) Movement of bilirubin and bilirubin conjugates across the placenta. Pediatrics 119:1032–1033. DOI  10.1542/peds.2006-3669 PubMedCrossRefGoogle Scholar
  6. 6.
    Newman TB, Maisels MJ (1992) Evaluation and treatment of jaundice in the term newborn: a kinder, gentler approach. Pediatrics 89:809–818PubMedGoogle Scholar
  7. 7.
    Taylor WG, Walkinshaw SA, Farquharson RG, Fisken RA, Gilmore IT (1991) Pregnancy in Crigler-Najjar syndrome. Case report. Br J Obstet Gynaecol 98:1290–1291PubMedGoogle Scholar
  8. 8.
    van der Veere CN, Sinaasappel M, McDonagh AF, Rosenthal P, Labrune P, Odièvre M, Fevery J, Otte JB, McClean P, Bürk G, Masakowski V, Sperl W, Mowat AP, Vergani GM, Heller K, Wilson JP, Shepherd R, Jansen PL (1996) Current therapy for Crigler-Najjar syndrome type 1: report of a world registry. Hepatology 24:311–315. DOI  10.1002/hep.510240205 PubMedCrossRefGoogle Scholar
  9. 9.
    Volpe JJ (1995) Bilirubin and brain injury. In: Volpe JJ (ed) Neurology of the newborn, 3rd edn. Saunders, Philadelphia, pp 490–514Google Scholar
  10. 10.
    Wennberg RP, Ahlfors CE, Bhutani VK, Johnson LH, Shapiro SM (2006) Toward understanding kernicterus: a challenge to improve the management of jaundiced newborns. Pediatrics 117:474–485. DOI  10.1542/peds.2005-0395 PubMedCrossRefGoogle Scholar
  11. 11.
    Worley G, Erwin CW, Goldstein RF, Provenzale JM, Ware RE (1996) Delayed development of sensorineural hearing loss after neonatal hyperbilirubinemia: a case report with brain magnetic resonance imaging. Dev Med Child Neurol 38:271–277PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Simon Hannam
    • 1
    Email author
  • Paul Moriaty
    • 2
  • Helen O’Reilly
    • 1
  • John S. Craig
    • 2
  • Michael A. Heneghan
    • 3
  • Alastair Baker
    • 1
  • Anil Dhawan
    • 1
  1. 1.Department of Child HealthKings College HospitalLondonUK
  2. 2.Regional Neonatal UnitRoyal Maternity HospitalBelfastUK
  3. 3.Institute of Liver StudiesKings College HospitalLondonUK

Personalised recommendations