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Crigler-Najjar(CN)disease is a rare metabolic disorder characterized by a permanent deficiency in hepatic bilirubin UDPglucuronate B-D- glucuronosyltransferase(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).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.Few cases of kernicterus occurring in adolescents or young adults with CN type I have been reported:cerebellar symptoms were not prominent and rather appeared as minor features among severe neurologic involvement.We report on three children with CN type I disease who had cerebellar symptoms as the initial manifestation of kernicterus with late onset,illustrating a particular aspect of bilirubin neurotoxicity. |
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ataxia
ataxia,cerebellar
ataxia,truncal
ataxic gait
bilirubin encephalopathy
Crigler-Najjar disease,type I
dysmetria
encephalopathy
gait disorder
hyperbilirubinemia
hyperbilirubinemia,CNS abnormality after
jaundice
kernicterus
mental retardation
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