PEDIATRICS Vol. 89 No. 4 April 1992, pp. 768-770
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Cerebellar Symptoms as the Presenting Manifestations of Bilirubin Encephalopathy in Children with Crigler-Najjar Type I Disease

P. H. LABRUNE MD1, M. ODIÈVRE MD1, A. MYARA MD2, F. TRIVIN PHD2, and J. FRANCOUAL PHD3

1 Service de Pédiatrie, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex
2 Laboratoire de Biochimie, Hôpital Saint Joseph, rue Pierre Larousse, 75014 Paris, France
3 Laboratoire de Biochimie, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex

Crigler-Najjar (CN) disease is a rare metabolic disorder characterized by a permanent deficiency in hepatic bilirubin UDPglucuronate beta-d-glucuronosyl-transferase (UDPG-T, EC 2.1.4.17) activity. Since 1969, patients affected by this disease have been classified in two groups: in the first group (CN type I), the serum bilirubin concentration does not decrease under treatment with phenobarbital although it does so dramatically in the second group (CN type II).1,2 Despite the use of phototherapy and cholestyramine to avoid bilirubin neurotoxicity, patients affected by CN type I disease are at permanent risk of developing kernicterus with severe neurologic sequelae. The classic symptoms of kernicterus in the neonate, with or without CN disease, do not comprise prominent cerebellar manifestations, and, in most cases, the infants die or develop choreoathetosis, hearing loss, and severe mental retardation.3,4

Submitted on August 12, 1991
Accepted on October 31, 1991




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