[Indirect hyperbilirubinemia of genetic origin: Case report of Crigler-Najjar syndrome type II]

Arch Argent Pediatr. 2010 Aug;108(4):e100-4. doi: 10.1590/S0325-00752010000400015.
[Article in Spanish]

Abstract

Crigler Najjar syndrome type II is related to a defect of bilirubin conjugation due to partial deficiency of the enzyme uridine diphosphate-glucuronyl transferase. Usually has a benign course, unlike Crigler Najjar type I, where the enzyme deficiency is total and the affected patients usually die at early ages. We present the case of a teenager with indirect hyperbilirubinemia, seizures and cerebral palsy. A good clinical history with pedigree and appropriate functional tests allowed us to determine the definitive diagnosis. This is an autosomal recessive disorder, has a very low prevalence worldwide, and is a diagnostic challenge for physicians in general.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Crigler-Najjar Syndrome / genetics
  • Female
  • Humans
  • Hyperbilirubinemia, Neonatal / genetics*
  • Pedigree

Supplementary concepts

  • Crigler Najjar syndrome, type 2