Presentation
Good morning, sir. I examined Baby Adewale, a 5-day-old boy born at term at home, brought with yellowness of the body from day 3 and poor sucking and lethargy since this morning. He is deeply jaundiced to the palms and soles. He is lethargic with a poor suck and a high-pitched cry. He is febrile at 38.3 °C. There is increased tone with retrocollis — his neck arches backwards when he is handled — and the Moro reflex is incomplete. The anterior fontanelle is flat. He is not pale and has no cephalhaematoma or bruising. The liver is 2 cm below the costal margin, and the spleen is not palpable. The umbilical stump is clean. His weight is 2.8 kg. I would like to complete my examination by checking the blood glucose and plotting the serum bilirubin for his age in hours.
Diagnosis
Severe hyperbilirubinaemia with acute bilirubin encephalopathy (intermediate phase), most likely from G6PD deficiency, ABO incompatibility or sepsis.
Differential diagnoses
- G6PD deficiency — boy, jaundice appearing after day 1, often after exposure to naphthalene, mentholated powders or herbal remedies; the commonest cause of kernicterus in Nigeria
- ABO incompatibility — mother group O, baby A or B; jaundice in the first 24–48 hours, spherocytes on the film
- Rhesus disease — rhesus-negative mother with previous pregnancies; jaundice in the first 24 hours with pallor and hepatosplenomegaly
- Neonatal sepsis or meningitis — fever, lethargy and poor feeding; can mimic encephalopathy and cause jaundice itself
- Hypoglycaemia or hypocalcaemia — jitteriness and seizures without such deep jaundice
- Conjugated hyperbilirubinaemia — pale stools and dark urine; biliary atresia or neonatal hepatitis, but not encephalopathy
Investigations
| Test | What you expect or look for |
|---|---|
| Total and conjugated serum bilirubin | Total well above the exchange threshold for age in hours; conjugated fraction low |
| Mother's and baby's blood group | Mother O and baby A or B (ABO); mother rhesus negative and baby positive (Rh) |
| Direct antiglobulin test | Positive in rhesus disease, often weakly positive or negative in ABO |
| Full blood count, reticulocytes, blood film | Anaemia and high reticulocytes in haemolysis; spherocytes in ABO; bite and blister cells in G6PD deficiency |
| G6PD assay | Low — but can be falsely normal during haemolysis; repeat at 3 months if normal |
| Blood culture, CRP | Sepsis |
| Lumbar puncture | When stable, if meningitis is suspected |
| Blood glucose, electrolytes, calcium | Hypoglycaemia, dehydration |
| Hearing test (auditory brainstem response) | Before discharge — kernicterus causes sensorineural loss |
| MRI brain | Later: high signal in the globus pallidus in kernicterus |
Stages of acute bilirubin encephalopathy
| Phase | Features |
|---|---|
| Early (days 1–2 of illness) | Lethargy, poor suck, hypotonia, high-pitched cry |
| Intermediate | Irritability, hypertonia with retrocollis and opisthotonus, fever, stupor |
| Advanced | Marked opisthotonus, apnoea, seizures, coma, death |
The BIND score (bilirubin-induced neurological dysfunction) grades mental status, tone and cry from 0 to 9.
Management
Management is multidisciplinary and urgent. I would admit him to the neonatal unit and counsel the mother on the seriousness of the illness, the need for exchange transfusion and the possible long-term effects.
Non-pharmacological
- Start intensive phototherapy immediately — do not wait for the laboratory result. Use high-irradiance blue light over the largest skin area, eyes shielded, nappy removed, turning the baby
- Prepare for urgent double-volume exchange transfusion — the signs of encephalopathy make it indicated regardless of the bilirubin level
- Maintain hydration and feeding: expressed breast milk by cup or tube, IV fluids if needed
- Keep warm, monitor temperature, glucose and seizures
- Remove any naphthalene, camphor or herbal products from the home
Pharmacological
- IV antibiotics after cultures — for example ampicillin and gentamicin, or cefotaxime if meningitis is suspected
- IV immunoglobulin 0.5–1 g/kg over 2 hours in isoimmune haemolysis (Rh or ABO) when bilirubin keeps rising despite intensive phototherapy
- Phenobarbital for seizures
- Calcium gluconate during exchange only if ionised calcium is low
Surgical and interventional
- Double-volume exchange transfusion of about 160–170 mL/kg through an umbilical venous catheter, in 5–10 mL aliquots over 1–2 hours
- Use fresh, cross-matched blood compatible with the mother's serum — group O rhesus negative red cells for Rh disease — less than 5 days old, warmed, irradiated where available
- Repeat bilirubin 2–4 hours after the exchange; a second exchange may be needed
For thresholds and exchange details see Phototherapy and exchange transfusion.
Complications and follow-up
- Kernicterus spectrum disorder: dyskinetic (athetoid) cerebral palsy, sensorineural hearing loss, upward gaze palsy, dental enamel dysplasia
- Seizures and intellectual disability
- Death
- Exchange transfusion complications: hypocalcaemia, hypoglycaemia, hyperkalaemia, thrombocytopenia, infection, necrotising enterocolitis, portal vein thrombosis, arrhythmias
Follow up with hearing assessment before discharge and at 3 months, neurodevelopmental review at 3, 6, 12 and 24 months, early physiotherapy, and G6PD education for the family — including avoidance of oxidant drugs and naphthalene for this baby and future siblings.
Examiner questions
References
- Kliegman RM, St Geme JW, Blum NJ, Tasker RC, Wilson KM, et al., eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia: Elsevier; 2025.
- National Institute for Health and Care Excellence. Jaundice in newborn babies under 28 days (CG98). London: NICE; 2010, updated 2023.
- Kemper AR, Newman TB, Slaughter JL, et al. Clinical practice guideline revision: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2022;150:e2022058859.