{"orpha":529799,"name":"Acute bilirubin encephalopathy","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ABE","Acute kernicterus"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529799/","orphanet_url":"https://www.orpha.net/en/disease/detail/529799","names":{"fr":{"name":"Encéphalopathie bilirubinique aiguë","synonyms":["Ictère nucléaire du nouveau-né"],"definition":"Maladie neurologique rare caractérisée par une léthargie, une hypotonie, des difficultés à s'alimenter, un opisthotonos et un cri aigu typique dû à l'accumulation de bilirubine dans le globus pallidus, les noyaux sous-thalamiques et d'autres régions du cerveau, résultant d'une hyperbilirubinémie néonatale non conjuguée sévère. Les symptômes se présentent généralement dans les trois à cinq premiers jours de la vie. Les autres signes cliniques sont la fièvre, l'apnée, les crises convulsives et le coma. En particulier, une insuffisance respiratoire ou des crises d'épilepsie réfractaires peuvent conduire au décès."},"de":{"name":"Bilirubin-Enzephalopathie, akute","synonyms":["ABE","Kernikterus, akuter"],"definition":"Eine seltene neurologische Erkrankung, die durch Lethargie, Hypotonie, schlechte Nahrungsaufnahme, Opisthotonus und einen typischen hohen Schrei gekennzeichnet ist und auf eine Bilirubinansammlung im Globus pallidus, in den subthalamischen Kernen und anderen Hirnregionen infolge einer schweren unkonjugierten neonatalen Hyperbilirubinämie zurückzuführen ist. Die ersten Symptome treten in der Regel innerhalb der ersten drei bis fünf Lebenstage auf. Weitere Merkmale sind Fieber, Apnoe, Krampfanfälle und Koma. Insbesondere Atemstillstand oder refraktäre Krampfanfälle können zu einem tödlichen Ausgang führen."},"es":{"name":"Encefalopatía aguda por bilirrubina","synonyms":["EBA","Encefalopatía bilirrubínica aguda","Ictericia aguda nuclear","Kernícterus agudo"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por letargia, hipotonía, alimentación deficiente, opistótonos y un llanto agudo típico debido al acúmulo de bilirrubina en el globo pálido, núcleos subtalámicos y otras regiones del cerebro, como resultado de una hiperbilirrubinemia neonatal no conjugada grave. La presentación de los síntomas suele ocurrir en los primeros tres a cinco días de vida. Las características adicionales incluyen fiebre, apnea, crisis y coma. La insuficiencia respiratoria o las convulsiones refractarias, principalmente, pueden conducir a un desenlace fatal."},"it":{"name":"Encefalopatia bilirubinica acuta","definition":"Si tratta di una malattia neurologica rara, caratterizzata da letargia, ipotonia, difficoltà di alimentazione, opistotono e pianto acuto caratteristico, dovuti all'accumulo di bilirubina nel globo pallido, nei nuclei subtalamici e in altre aree del cervello, causati dall'iperbilirubinemia non coniugata neonatale grave. Di solito i sintomi si manifestano nei primi tre-cinque giorni di vita. Altri segni clinici sono la febbre, le apnee, le crisi epilettiche e il coma. L'insufficienza respiratoria e le crisi epilettiche refrattarie possono esitare nella morte."},"nl":{"name":"Acute bilirubine-encefalopathie","synonyms":["ABE","Acute kernicterus"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door lethargie, hypotonie, voedingsproblemen, opisthotonus, en een typisch schel gehuil te wijten aan accumulatie van bilirubine in globus pallidus, subthalamische kernen, en andere hersengebieden, als gevolg van ernstige neonatale niet-geconjugeerde hyperbilirubinemie. Aanvang van symptomen vindt doorgaans plaats tijdens de eerste drie tot vijf dagen na de geboorte. Bijkomende kenmerken zijn onder meer koorts, apneu, insulten, en coma. Vooral respiratoir falen of refractaire insulten kunnen leiden tot een fatale uitkomst."},"pt":{"name":"Encefalopatia devido a hiperbilirrubinémia aguda"},"pl":{"name":"Ostra encefalopatia z bilirubinemią","synonyms":["Ostra żółtaczka jąder podstawy mózgu"]},"cs":{"name":"Akutní bilirubinová encefalopatie","synonyms":["ABE","Akutní kernikterus"]},"uk":{"name":"Гостра білірубінова енцефалопатія","synonyms":["ABE","Гострий керніктер"],"definition":"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."},"zh":{"name":"急性胆红素脑病","synonyms":["急性核黄疽"],"definition":"罕见神经系统疾病，其特征为由于新生儿严重的非结合性血胆红素过多，导致胆红素在苍白球、丘脑底核等脑区积聚，出现嗜睡、肌张力低下、喂养不良、角弓反张、典型的高声哭闹。发病症状一般在出生后的前3～5天内。其他特征包括发热、呼吸暂停、癫痫发作和昏迷。特别是呼吸衰竭或难治性癫痫发作可能致死。"},"tr":{"name":"Akut bilirubin ensefalopatisi","synonyms":["ABE","Akut kernikterus"]}},"xrefs":[{"source":"ICD-10","code":"P57.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KA86","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035344","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5671282","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":415286,"name":"Bilirubin encephalopathy","classifications":[150,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"United Kingdom","status":"Validated","source":"32021624[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.87,"area":"United Kingdom","status":"Validated","source":"17074786[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-27","source":"30406356[PMID]_29593357[PMID]_27113379[PMID]_22123452[PMID]_20123952[PMID]","terms":[{"hpo":"HP:0006958","label":"Abnormal auditory evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000502","label":"Abnormal conjunctiva morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032106","label":"Conjunctival icterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001343","label":"Kernicterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003228","label":"Hypernatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040187","label":"Neonatal sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Occasional (29-5%)","criteria":null}]}}