Abstract
Patients suffering from Crigler-Najjar (CN) type I disease, a rare inborn error of bilirubin metabolism due to a deficiency in hepatic bilirubin uridine diphosphate glucuronosyltransferase (8 UDPG-T) activity, are at permanent risk of developing neurotoxic effects of bilirubin (kernicterus). While cerebellar hypoplasia occurs in new born Gunn rats, the animal model of CN type I, cerebellar symptoms are not prominent in kernicterus observed in children.
Cases report: 3 infants (2 girls and 1 boy) became jaundiced at 2 days. Despite treatment all of them underwent exchange-transfusions at the age of 9 days. Then, phototherapy had to be continued and phenobarbital was not efficient. At the age of 4 months, hepatic B UDPG-T was found to be nil in the 3 patients. At the age of 3 years, 4 years and 6 years, respectively, these children presented with cerebellar symptoms a week after a reduction of phototherapy. Serum bilirubin concentrations at the time of admission were 581, 514 and 600μmol/L, respectively. Under correct treatment cerebellar symptoms slowly and partially decreased in the 3 children, while moderate mental retardation became obvious; none of them has any evidence of deafness and brain CT scan is normal in 2 of them.
Conclusions: 1) These 3 cases illustrate a new clinical aspect of kernicterus, 2) kernicterus may have different clinical manifestations in infants and in older children, 3) the cerebellum may be the preferential target of bilirubin in children while it is not so in infants.
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Labrune, P., Narcy, C., Myara, A. et al. 133 CEREBELLAR INVOLVEMENT IN BILIRUBIN ENCEPHALOPATHY DUE TO CRIGLER-NAJJAR TYPE 1 DISEASE. Pediatr Res 30, 650 (1991). https://doi.org/10.1203/00006450-199112000-00163
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DOI: https://doi.org/10.1203/00006450-199112000-00163