1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-6-56 10.15844/pedneurbriefs-6-7-12 Metabolic and Toxic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Cerebellar Symptoms in Crigler-Najjar Type I Disease http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 1992 01 07 2016 6 7 56 56 Copyright: © 1992 The Author(s) 1992 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type I disease

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.

 Crigler-Najjar Type I Disease Cerebellar Symptoms Dentate Nuclei

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]

 Labrune PH Myara A Francoual J Trivin F Odievre M Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type I disease Pediatrics 1992 Apr 89 4 Pt 2 768 770 1557275 Maisels MJ Newman TB Evaluation and treatment of jaundice in the term newborn: a kinder, gentler approach Pediatrics 1992 May 89 5 Pt 1 809 818 1579380