II. Epidemiology: Incidence

  1. Acute Bilirubin Encephalopathy: 1 infant in 10,000
    1. Progresses to Kernicterus in 5% of infants
  2. Chronic Bilirubin Encephalopathy (Kernicterus): 1 infant in 100,000

III. Risk Factors

  1. See Nonphysiologic Neonatal Jaundice
  2. Severe Hyperbilirubinemia (>20 mg/dl)
    1. Hyperbilirubinemia alone does not predict Bilirubin Encephalopathy
    2. For healthy infants at term with Serum Bilirubin >30 mg/dl, only 5% develop Bilirubin Encephalopathy
    3. Gamaleldin (2011) Pediatrics 128(4): e925-31 [PubMed]
  3. Earlier Gestational age
  4. Hemolysis
  5. Sepsis

IV. Pathophysiology

  1. Unconjugated Bilirubin (indirect) elevation
  2. Total Bilirubin > 25 to 30 mg/dl
  3. Bilirubin necroses Neurons
    1. Basal Ganglia
    2. Globus Pallidus
    3. Putamen
    4. Caudate nuclei

V. Symptoms and Signs

  1. Stage 1 : Acute Bilirubin Encephalopathy
    1. Moro Reflex diminished
    2. Tone diminished
    3. Lethargy
    4. Poor feeding
    5. Vomiting
    6. High pitched cry
  2. Stage 2 (High mortality in this stage)
    1. Opisthotonus
    2. Seizure
    3. Irritability
    4. Fever
    5. Rigidity
    6. Oculogyric crisis
    7. Upward gaze paralyzed
  3. Stage 3
    1. Spasticity decreases at 1 week of age
  4. Stage 4: Kernicterus (Chronic Bilirubin Encephalopathy with Residual deficits)
    1. Spasticity
    2. Severe athetoid Cerebral Palsy
    3. High frequency Hearing Loss or Deafness
    4. Mild Mental Retardation
    5. Upward gaze paralysis
    6. Dental dysplasia

VII. Prognosis

  1. Significant mortality and morbidity
  2. Developmental follow-up is indicated for severe Hyperbilirubinemia

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Ontology: Kernicterus (C0022610)

Definition (MSHCZE) Jádrový ikterus, žluté zbarvení mozkových jader (zejm. bazálních ganglií) způsobené žlučovým barvivem (bilirubinem). Vzniká u těžké novorozenecké žloutenky (viz fetální erytroblastóza). Způsobuje závažná poškození mozku. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.
Definition (MSH) A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)
Definition (CSP) brain disorder associated with high levels of bilrubin; clinical features include athetosis, muscle spasticity or hypotonia, impaired vertical gaze, and deafness; nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the blood-brain barrier; this condition occurs primarily in neonates with perinatal blood incompatibilities, but may rarely occur in adults.
Concepts Disease or Syndrome (T047)
MSH D007647
ICD10 P57 , P57.9
SnomedCT 157135006, 230770008, 268880009, 206479002, 74925009, 50143004
English Bilirubin Encephalopathies, Bilirubin Encephalopathy, Encephalopathies, Bilirubin, Encephalopathy, Bilirubin, Kernicterus, Kernicterus, unspecified, ENCEPH BILIRUBIN, BILIRUBIN ENCEPH, HYPERBILIRUBINEMIC ENCEPH, ENCEPH HYPERBILIRUBINEMIC, bilirubin encephalopathy, kernicterus, kernicterus (diagnosis), kernicterus of newborn (diagnosis), kernicterus of newborn, Jaundice nuclear, Encephalopathies, Hyperbilirubinemic, Encephalopathy, Hyperbilirubinemic, Hyperbilirubinemic Encephalopathies, Hyperbilirubinemic Encephalopathy, Kernicterus [Disease/Finding], Kernicterus (disorder), Kernicterus of newborn NOS (disorder), Nuclear jaundice, Bilirubin encephalopathy, Kernicterus of newborn, Kernicterus (morphologic abnormality), Kernicterus of newborn (disorder), encephalopathy; hyperbilirubinemic, hyperbilirubinemic; encephalopathy, jaundice; kernicterus, kernicterus; jaundice, kernicterus; newborn, Kernicterus of newborn, NOS, Kernicterus of newborn NOS
Dutch bilirubine encefalopatie, encefalopathie; hyperbilirubinemisch, geelzucht; kernicterus, hyperbilirubinemisch; encefalopathie, kernicterus; geelzucht, kernicterus; pasgeborene, Kernicterus, niet gespecificeerd, kernicterus, Bilirubine-encefalopathie, Hyperbilirubinemische encefalopathie, Kernicterus
German Bilirubinenzephalopathie, Kernikterus, nicht naeher bezeichnet, Kernikterus, Bilirubin-Enzephalopathie, Hyperbilirubinämische Enzephalophatie
Portuguese Encefalopatia por bilirrubina, Icterícia nuclear, Querníctero, Kerníctero, Kernicterus, Encefalopatia Bilirrubínica, Encefalopatia Hiperbilirrubinêmica
Spanish Encefalopatía por exceso de bilirrubina, Ictericia nuclear, kernicterus del recién nacido, SAI, kernicterus del recién nacido, SAI (trastorno), Kernítero, Querníctero, encefalopatía bilirrubínica, encefalopatía por bilirrubina, ictericia nuclear (anomalía morfológica), ictericia nuclear, kernicterus del recién nacido (trastorno), kernicterus del recién nacido, kernícterus, Kernicterus, Encefalopatía Bilirrubínica, Encefalopatía Hiperbilirrubinémica
Swedish Kernikterus
Japanese ビリルビンノウショウ, カクオウダン, 核黄疸, ビリルビン脳症
Czech kernikterus, Jádrový ikterus, Encefalopatie bilirubinová, Kernikterus
Finnish Kernikterus
Russian KERNIKTERUS, ENTSEFALOPATIIA BILIRUBINOVAIA, BILIRUBINOVAIA ENTSEFALOPATIIA, ZHELTUKHA IADERNAIA, БИЛИРУБИНОВАЯ ЭНЦЕФАЛОПАТИЯ, ЖЕЛТУХА ЯДЕРНАЯ, КЕРНИКТЕРУС, ЭНЦЕФАЛОПАТИЯ БИЛИРУБИНОВАЯ
Italian Encefalopatia iperbilirubinemica, Encefalopatia da bilirubina, Ittero nucleare
Korean 핵황달, 상세불명의 핵황달
Polish Kernicterus, Żółtaczka jąder podkorowych mózgu
Hungarian Mag-icterus, Bilirubin encephalopathia, Magicterus
Norwegian Kjerneikterus, Kernicterus, Bilirubinencefalopati, Kernikterus, Kjerneicterus, Bilirubin-encefalopati
French Ictère nucléaire néonatal, Ictère nucléaire, Encéphalopathie bilirubinique, Encéphalopathie hyperbilirubinémique, Encéphalopathie par hyperbilirubinémie, Kernictère