Crigler-Najjar Syndrome Type 2 in an Adult: A Rare Presentation

Introduction: Crigler-Najjar syndrome type 2 (CNS type 2) is a rare disorder that causes elevated levels of bilirubin in the blood (nonhemolytic unconjugated hyperbilirubinemia). The main symptom of CNS type 2 is persistent jaundice. It is caused by genetic changes in the UGT1A1 gene and the inheritance is autosomal recessive. Genetic testing of the UGT1A1 gene for mutations is the diagnostic clincher. We report one such rare case. Case report: A 75-year-old male presented with history of right-sided weakness with right-sided facial weakness, MRI brain revealed an infarct in the left side of brain with general physical findings suggestive of icterus. Conclusion: Diagnosing and managing these patients may be challenging. Our aim is to draw attention of the treating physicians towards this disease with the help of this case report.

Consenso de hiperbilirrubinemia del primer trimestre de la vida / Consensus on hyperbilirubinemia of the first trimester of life

La presencia de ictericia en la etapa neonatal puede responder a diversas causas, desde situaciones fisiológicas hasta enfermedades graves. En los neonatos de término que persisten ictéricos más allá de los 14 días de vida, debe determinarse si la hiperbilirrubinemia es no conjugada o conjugada para establecer, a la brevedad, el plan de estudios etiológicos y la terapéutica correspondiente. La hiperbilirrubinemia conjugada (colestasis) refleja una disfunción hepática en la mayoría de los casos, cuyas consecuencias son alteraciones del flujo biliar secundarias a anormalidades estructurales o moleculares del hígado y/o del tracto biliar.Durante la última década, los nuevos estudios moleculares revolucionaron el abordaje de los pacientes colestáticos, lo que permitió el diagnóstico de diversas entidades genéticas. La etiología de la hiperbilirrubinemia del primer trimestre debe determinarse con urgencia, ya que, en muchos casos, el tratamiento instituido de modo precoz puede modificar sustancialmente la evolución de la enfermedad o salvar la vida del paciente.

Neonatal jaundice may be due to different causes, ranging from physiological conditions to severe diseases. In term neonates with persistent jaundice beyond 14 days of life, it should be determined whether hyperbilirubinemia is unconjugated or conjugated, in order to study the etiology and start early treatment. In the majority of cases, conjugated hyperbilirubinemia (cholestasis) is a sign of liver dysfunction possibly associated with alterations in the bile flow secondary to structural or molecular abnormalities of the liver and/or the biliary tract. Over the past decade, new molecular studies have revolutionized the approach of cholestatic patients, leading to the identification of different genetic entities. It is important to determine the etilogy of neonatal hyperbilirubinemia since in many cases early treatment will substantially improve morbidity and mortality.

Effect of Instituting a Hospital Pre-discharge Bilirubin Screening on Subsequent Significant Hyperbilirubinemia in Term and Near Term Newborn.

Background: Neonatal Jaundice is a common disorder worldwide. Early identification and proper management is needed to prevent the serious neurological complications associated with it. Objective: The aim of this study is to assess the predictive ability of a pre-discharge serum bilirubin measurement to screen for subsequent significant hyperbilirubinemia in the term and near-term newborn. Materials and Methods: This is a historic cohort study conducted at Makassed General Hospital during two periods of time: January 2011 till December 2011, versus January 2013 till December 2013. A bilirubin screening program, instituted in February 2012, called for a total serum bilirubin to be performed on every neonate before discharge regardless of whether clinical jaundice was observed. For non-jaundiced neonates, the nursery staff was encouraged to obtain the screening total serum bilirubin at the sametime they obtained the hospital-mandated newborn screen for inborn errors of metabolism. Bilirubin values were plotted on an hour-specific nomogram. This study compared mean total serum bilirubin and hospital readmission data for two different periods before and after implementing the program. Results: The study involved 1200 neonates: 601 in period one and 599 in period two. After initiating the program, the mean peak of total serum bilirubin fell from 14.76 mg/dl to 11.03 mg/dl. Also the rate of hospital readmission with a primary diagnosis of jaundice fell from 10% in period one to 1.8% in period two. Conclusion: A pre-discharge total serum bilirubin applied as a policy in hospitals would facilitate targeted intervention and follow-up for indirect hyperbilirubinemiaina safe, cost-effective manner.