Acute bilirubin encephalopathy
Synonyms: ABE · Acute kernicterus
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute bilirubin encephalopathy | ABE · Acute kernicterus |
| fr | Encéphalopathie bilirubinique aiguë | Ictère nucléaire du nouveau-né |
| de | Bilirubin-Enzephalopathie, akute | ABE · Kernikterus, akuter |
| es | Encefalopatía aguda por bilirrubina | EBA · Encefalopatía bilirrubínica aguda · Ictericia aguda nuclear · Kernícterus agudo |
| it | Encefalopatia bilirubinica acuta | |
| nl | Acute bilirubine-encefalopathie | = en |
| pt | Encefalopatia devido a hiperbilirrubinémia aguda | |
| pl | Ostra encefalopatia z bilirubinemią | Ostra żółtaczka jąder podstawy mózgu |
| cs | Akutní bilirubinová encefalopatie | ABE · Akutní kernikterus |
| uk | Гостра білірубінова енцефалопатія | ABE · Гострий керніктер |
| zh | 急性胆红素脑病 | 急性核黄疽 |
| tr | Akut bilirubin ensefalopatisi | ABE · Akut kernikterus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P57.8 | NTBT | attributed | validated |
| ICD-11 | KA86 | NTBT | attributed | validated |
| MONDO | 0035344 | E | validated | |
| UMLS | C5671282 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:415286Bilirubin encephalopathy
rare inborn errors of metabolism; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | United Kingdom | Class only | Validated | 32021624[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.87 / 100 000 | United Kingdom | Value and class | Validated | 17074786[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2019-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0006579 | Prolonged neonatal jaundice | |
| Frequent (79-30%) | ||
| HP:0000502 | Abnormal conjunctiva morphology | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0002871 | Central apnea | |
| HP:0100021 | Cerebral palsy | |
| HP:0032106 | Conjunctival icterus | |
| HP:0011968 | Feeding difficulties | |
| HP:0001945 | Fever | |
| HP:0001878 | Hemolytic anemia | |
| HP:0001276 | Hypertonia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001343 | Kernicterus | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0003228 | Hypernatremia | |
| HP:0040187 | Neonatal sepsis | |
| HP:0025331 | Upgaze palsy | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30406356[PMID]_29593357[PMID]_27113379[PMID]_22123452[PMID]_20123952[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/529799
- This record as JSON: /data/d/529799.json