title: [Indirect hyperbilirubinemia of genetic origin: Case report of Crigler-Najjar syndrome type II].
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.
authors.affiliation: Universidad Católica Santiago de Guayaquil. j_carriel@hotmail.com
authors.forename: Jorge
authors.initials: J
authors.lastname: Carriel Mancilla
authors.forename: Ana
authors.initials: A
authors.lastname: Castañares Perdigón
mesh_terms: D000293:Adolescent; D003414:Crigler-Najjar Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000235:genetics*; D010375:Pedigree