Three children with Crigler-Najjar (CN) type I disease who had cerebellar symptoms as the initial manifestation of kernicterus are reported from the Hopital Antoine Beclere, Clamart Cedex, France. Patient 1, a 3600 gram boy, was admitted with jaundice and a serum total bilirubin of 507 umol/L unconjugated on day 2. After two exchange transfusions and continuous phototherapy the jaundice persisted and a therapeutic trial with phenobarbital was of no benefit. The bilirubin UDPG-T hepatic activity assayed at 3 months was absent. At age 6 years during an episode of fever and headache with respiratory viral infection the jaundice increased and ataxia and dysmetria developed. Liver transplantation was performed with apparent success. In all 3 children the cerebellar symptoms began after an infectious episode or an interruption of phototherapy. The neurotoxicity was associated with an elevated saturation of albumin by bilirubin of 61% to 75%. In 8 patients without neurotoxicity this parameter remained below 58%. [1]
COMMENT. Cerebellar symptoms are rare features of kernicterus despite the known occurrence of bilirubin staining of the dentate nuclei in pathological studies. The absence of reports of cerebellar involvement in the neonate may be explained by the difficulty in detection of cerebellar signs. Since neurological impairment may be permanent and is potentially preventable, patients with CN-1 disease are candidates for liver transplantation performed when phototherapy is ineffective and prior to the development of kernicterus. Therapy of jaudice in the newborn is reviewed by Newman TB and Maisels MJ. [2]