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A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.
Features include very common findings: Hepatic encephalopathy, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, and Abnormal auditory evoked potentials; and common findings: Inner ear hearing loss (sensorineural hearing impairment), Abnormal conjunctiva morphology, Seizure, and Hypertonia and others. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 3 | Hepatic encephalopathy, Prolonged neonatal jaundice, Feeding difficulties |
Biomarker and diagnostic research for acute bilirubin encephalopathy has been reported in the published literature.
Phenotype severity distribution: 4 very common features, 13 common features.
No clinical trials have been registered for acute bilirubin encephalopathy.
26 publications have been identified in PubMed for acute bilirubin encephalopathy. Research spans Clinical Trial Publication (27%), Epidemiology / Natural History (23%), and Diagnostic / Biomarker (15%).
Research Type | Count | % of Total |
|---|---|---|
Clinical study results | 7 | 27% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:44 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acute bilirubin encephalopathy
Brain and nerves | 3 | Hepatic encephalopathy, Seizure, Cerebral palsy |
Pregnancy and birth | 3 | Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal sepsis |
Eyes | 2 | Abnormal conjunctiva morphology, Conjunctival icterus |
Lab test results | 1 | Neonatal hyperbilirubinemia |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
Blood and immune system | 1 | Red blood cell destruction (hemolytic anemia) |
Metabolism | 1 | Fever |
Lungs and breathing | 1 | Central apnea |
Disease patterns and progression
6 |
23% |
Testing and diagnosis research | 4 | 15% |
Research summaries | 4 | 15% |
Patient case studies | 4 | 15% |
Laboratory research | 1 | 4% |
Zhuang Y (2026). [PMID: 42142176](https://pubmed.ncbi.nlm.nih.gov/42142176/). *Pediatr Radiol*. [Diagnostic / Biomarker]
Farouk ZL (2026). [PMID: 42114958](https://pubmed.ncbi.nlm.nih.gov/42114958/). *BMJ Paediatr Open*. [Epidemiology / Natural History]
Alim M (2026). [PMID: 41847843](https://pubmed.ncbi.nlm.nih.gov/41847843/). *Trop Doct*. [Epidemiology / Natural History]
Olusanya BO (2026). [PMID: 40581699](https://pubmed.ncbi.nlm.nih.gov/40581699/). *Pediatric research*. [Case Report / Case Series]
Wu M (2026). [PMID: 41813681](https://pubmed.ncbi.nlm.nih.gov/41813681/). *Scientific reports*. [Review / Meta-Analysis]
Lai NM (2026). [PMID: 41784088](https://pubmed.ncbi.nlm.nih.gov/41784088/). *The Cochrane database of systematic reviews*. [Review / Meta-Analysis]
Good WV (2026). [PMID: 41513103](https://pubmed.ncbi.nlm.nih.gov/41513103/). *Ophthalmology*. [Epidemiology / Natural History]
Lueangapapong N (2026). [PMID: 42106782](https://pubmed.ncbi.nlm.nih.gov/42106782/). *Ital J Pediatr*. [Review / Meta-Analysis]
Zeiler BB (2026). [PMID: 42028445](https://pubmed.ncbi.nlm.nih.gov/42028445/). *Case Rep Pediatr*. [Case Report / Case Series]
Pak E (2025). [PMID: 40555420](https://pubmed.ncbi.nlm.nih.gov/40555420/). *Hospital pediatrics*. [Clinical Trial Publication]