Abstract
Crigler–Najjar syndrome type I (CN-I, MIM #218800) is a rare and severe autosomal disorder. It is caused by deficiency of the liver enzyme responsible for bilirubin elimination, the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1; EC 2.4.1.17). Biologically, the disease manifests itself with severe and persistent unconjugated hyperbilirubinemia. Kernicterus is a well-known complication of severe unconjugated hyperbilirubinemia in infants and young children, especially in patients with CN-I.
Few articles have shown the efficiency of plasmapheresis for extreme hyperbilirubinemia.
In this report, we describe the efficiency of plasmapheresis for a rapid control of acute and severe unconjugated hyperbilirubinemia in a 6-year-old CN-I patient who had previously developed kernicterus in the neonatal period. In spite of intensification of phototherapy, the patient developed severe hyperbilirubinemia (up to 830 μmol/l, with bilirubin/albumin ratio at 1.2). With two plasmapheresis procedures, bilirubin serum concentration decreased to 420 μmol/ and bilirubin/albumin ratio to 0.55. Following the acute episode of very severe unconjugated hyperbilirubinemia, the child recovered and neurological examination was unchanged, thus suggesting that plasmapheresis possibly prevented further worsening of kernicterus.
Competing interests: None declared.
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References
Abraham NG, Kappas A (2008) Pharmacological and clinical aspects of heme oxygenase. Pharmacol Rev 60:79–127
Ahlfors CE, Wenneberg RP, Ostrow JD, Tiribelli C (2009) Unbound (free) bilirubin: improving the paradigm for evaluating neonatal jaundice. Clin Chem 55:1288–1299
Blaschke TF, Berk PD, Scharschmidt BF, Guyther JR, Vergalla JM, Waggoner JG (1974) Crigler-Najjar syndrome: an unusual course with development of neurologic damage at age eighteen. Pediatr Res 8:573–590
Chalasani N, Roy Chowdhury N, Roy Chowdhury J, Boyer TD (1997) Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect. Gastroenterology 112:2099–2103
Drummond GS, Kappas A (2004) Chemoprevention of severe neonatal hyperbilirubinemia. Semin Perinatol 28:365–368
Kappas A (2004) A method for interdicting the development of severe jaundice in newborns by inhibiting the production of bilirubin. Pediatrics 113:119–123
Labrune P, Myara A, Francoual J, Trivin F, Odièvre M (1992) Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type I disease. Pediatrics 89:768–770
Petit FM, Bézieau S, Gajdos V, Parisot F, Scoul C, Capel L, Stozinic V, Khrouf N, M'Rad R, Koshy A, Mollet-Boudjemline A, Francoual J, Labrune P (2008) The Tunisian population history through the Crigler-Najjar type I syndrome. Eur J Hum Genet 16:848–853
Place E, Wenzel JE, Arumugam R, Belani K, Messinger Y (2007) Successful plasmapheresis for extreme hyperbilirubinemia caused by acute Epstein-Barr virus. J Pediatr Hematol Oncol 29:323–326
Shapiro SM (2010) Chronic bilirubin encephalopathy: diagnosis and outcome. Semin Fetal Neonatal Med 15:157–163
Strauss KA, Robinson DL, Vreman HJ, Puffenberger EG, Hart G, Morton DH (2006) Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease. Eur J Pediatr 165:306–319
Walmsley D, Alzaharani K, Coke WJ, Gandhi R (2010) Total knee arthroplasty and Crigler-Najjar syndrome: a case report. Knee 17:252–254
Wang X, Wu W, Hou BL, Zhang P, Chineah A, Liu F, Liao W (2008) Studying neonatal bilirubin encephalopathy with conventional MRI, MRS, and DWI. Neuroradiology 50:885–893
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Communicated by: Peter Theodore Clayton.
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© 2011 SSIEM and Springer-Verlag Berlin Heidelberg
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Sellier, A.L., Labrune, P., Kwon, T., Boudjemline, A.M., Deschènes, G., Gajdos, V. (2011). Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome. In: JIMD Reports - Case and Research Reports, 2011/2. JIMD Reports, vol 2. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_40
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DOI: https://doi.org/10.1007/8904_2011_40
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