Pregnancy Outcome in Maternal Crigler-Najjar Syndrome Type II: A Case Report and Systematic Review of the Literature

• Published in: Fetal diagnosis and therapy Vol. 26; no. 3; pp. 121 - 126
• Main Authors: Passuello, V., Puhl, A.G., Wirth, S., Steiner, E., Skala, C., Koelbl, H., Kohlschmidt, N.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland Karger 01.01.2009; S. Karger AG
• Subjects: Adult; Bilirubin - blood; Biological and medical sciences; Crigler-Najjar Syndrome - drug therapy; Delivery. Postpartum. Lactation; Female; Gastroenterology. Liver. Pancreas. Abdomen; General aspects; Gynecology. Andrology. Obstetrics; Hearing Disorders - etiology; Humans; Infant; Infant, Newborn; Kernicterus - complications; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Medical sciences; Other diseases. Semiology; Phenobarbital - therapeutic use; Pregnancy; Pregnancy Complications - drug therapy; Pregnancy Outcome; Review; Crigler-Najjar syndrome; Phenobarbital; Uridine 5′-diphosphate-glucuronosyltransferase; Bilirubin; UGT1A1 gene; Prognosis; Psychotropic; Neonatology; Hepatic disease; Anticonvulsant; Review; Biliary tract disease; Enzymopathy; Hyperbilirubinemia; Gene; Mother; Sedative; Barbiturates; Pyrimidine nucleoside; Human; Metabolic diseases; Hypnotic; Genetic disease; Crigler-Najjar disease; Case study; Pregnancy; Medicine; Uridine 5'-diphosphate-glucuronosyltransferase; Uridine; Digestive diseases; Bibliographic review
• ISSN: 1015-3837; 1421-9964
• DOI: 10.1159/000238122

Objective: To report a case of maternal Crigler-Najjar syndrome (CNS) type II in pregnancy, systematically review the literature for similar case reports, and to evaluate whether pregnancy is safe in patients with the disease. Data sources included the PubMed and uptodate databases. Results: A 37-year-old mother with CNS type II was treated with phenobarbital during her pregnancy and her bilirubin levels were monitored. Her newborn had mild direct hyperbilirubinemia, did not require any treatment and his postnatal follow-up showed normal growth and development as well as normal hearing. Conclusion: CNS type II is rare, and only a few pregnancies with this condition have been reported. Maternal treatment with phenobarbital lowers the unconjugated bilirubin and avoids fetal and newborn sequelae.