An unusual case of Crigler-Najjar disease in the adult. Classification into types I and II revisited

J Hepatol. 1985;1(1):47-53. doi: 10.1016/s0168-8278(85)80067-2.

Abstract

We present the case of a 25-year-old man with Crigler-Najjar disease who had since birth a marked unconjugated hyperbilirubinemia without bilirubin overproduction, without any neurological involvement and in whom phenobarbital administration failed to produce any effect. Analysis of his biliary bile pigments on two occasions showed (i) a decrease excretion of bilirubin, as indirectly suggested by a high ratio of biliary bile acids over total bilirubin; (ii) an increase in unconjugated bilirubin IX alpha quantitated by thin-layer chromatography (TLC) following alkaline methanolysis and by direct extraction and TLC of the tetrapyrroles; (iii) a high proportion of bilirubin monoconjugates whereas the excretion of diconjugates was very low. Classification of the present patient into Crigler-Najjar disease type I or II was not possible. The most striking and practical difference among the various cases of Crigler-Najjar disease remains the response to phenobarbital. Among cases of Crigler-Najjar disease which respond to enzyme induction and Gilbert's syndrome, the continuous spectrum suggests a common defect.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bile / metabolism
  • Bile Acids and Salts / metabolism
  • Bilirubin / metabolism
  • Crigler-Najjar Syndrome / classification*
  • Crigler-Najjar Syndrome / drug therapy
  • Crigler-Najjar Syndrome / metabolism
  • Glucuronosyltransferase / metabolism
  • Humans
  • Hyperbilirubinemia, Hereditary / classification*
  • Male
  • Phenobarbital / therapeutic use

Substances

  • Bile Acids and Salts
  • Glucuronosyltransferase
  • Bilirubin
  • Phenobarbital