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Chronic bilirubin encephalopathy

Disease definition

A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.

ORPHA:529808

Classification level: Disorder
  • Synonym(s):
    • BIND
    • Bilirubin-induced neurological dysfunction
    • CBE
    • KSD
    • Kernicterus spectrum disorder
  • Prevalence: -
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Infancy
  • ICD-10: P57.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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