Case 18 A jaundiced neonate

Caleb, an 8-day-old infant, is referred by the midwife to the hospital’s ED. He is feeding poorly, has lost 800 g, and appears jaundiced.

He was born at full term weighing 3.85 kg by normal vaginal delivery. The pregnancy had been uncomplicated, and he was in good condition at birth. His mother is of black West African ethnicity. Her blood group is O Rhesus Positive.

Caleb was discharged home 12 hours after birth, and was breast fed. His mother had thought he looked jaundiced at 2 days of age, but he appeared to be feeding hungrily and she had not been worried about him at that stage.

On examination, Caleb weighs 3.05 kg and is floppy and lethargic with a dry mouth. His nappy is dry. His capillary refill time is 3 secs, and his feet feel cold. He is apyrexial.

Caleb’s abdomen is soft, with a 1 cm liver edge and no other abdominal masses or tenderness. His sclerae, palms and soles appear jaundiced.

What would you do next?

An iv line is sited, and blood is taken for FBC, blood culture, U and Es, blood glucose and bilirubin. Caleb is given a bolus of 20 ml/kg 0.9% sodium chloride.

Initial results phoned to the ED

A diagnosis of severe neonatal jaundice is made, with sepsis or haemolysis as possible causes. The baby is given iv cefotaxime and amoxicillin.

The local hospital does not have paediatric inpatient beds, and the secondary hospital (5 kilometres away) which normally provides inpatient cover has no paediatric beds. Caleb is therefore transferred to the tertiary hospital, 20 kilometres away, by ambulance, and arrives there 5 hours following his initial presentation to the local hospital.

What are your priorities for this baby?

Shortly after arrival at the tertiary hospital, Caleb has a short, self-terminating generalized seizure lasting 2 minutes. Blood glucose, calcium and blood gases are normal.

Caleb is placed under double phototherapy lights, rehydrated with 10% dextrose/0.45% sodium chloride, and blood is urgently cross matched for a double volume exchange blood transfusion.

Peripheral arterial access is obtained.

Laboratory results at the tertiary hospital

• Total bilirubin 840 μmol/L
  
• Blood group A, Rhesus Positive
  
• Direct Antiglobulin Test (DAT): Positive

An isovolaemic, double volume (160 ml/kg) exchange blood transfusion is performed. The procedure starts 6 hours after the initial presentation, 20 ml of blood are replaced by the peripheral venous line every 4 minutes whilst the same volume is removed via the peripheral arterial line. Caleb has continuous ECG and temperature monitoring, and BP is recorded after each 80 mls of blood transfused. During the procedure, he has two further brief seizures.

At the end of the procedure:

• Total bilirubin 260 μmol/L
  
• Hb 16.3 g/dL, WBC 14.4 × 109/L, Platelets 64 × 109/L
  
• Total calcium 2.1 mmol/L (2.2–2.7 mmol/L)
  
• Glucose 4.0 mmol/L

What further investigations are important?

Because of the seizures, a cerebral US is performed, followed by a LP.

Cerebral ultrasound:

• Normal intracranial anatomy. No intracranial bleeding.

Lumbar puncture:

• Xanthochromic CSF
  
• 2 WBC, 100 RBC
  
• No bacterial growth after 48hr incubation in blood or CSF.

Caleb continues under phototherapy lights for a further 2 days. He is fed expressed breast milk after 12 hours, by a nasogastric tube. The following day, Glucose 6 Phosphate Dehydrogenase (G6PD) enzyme deficiency is reported. The blood platelet count rises spontaneously to 180 × 109 /L after 48 hours.

Follow-up of hearing at 4 weeks and 3 months of age demonstrates severe sensorineural deafness. Caleb becomes progressively dystonic, and at 18 months of age is microcephalic, with clear clinical evidence of athetoid cerebral palsy.

The final diagnosis is kernicterus secondary to haemolytic jaundice as a result of combined ABO incompatibility and G6PD deficiency.

Caleb’s family complain stating that the delay in performing the exchange transfusion has led to their son’s cerebral palsy, and that they had not been warned of the dangers of jaundice in the newborn.

Expert opinion

The diagnosis of jaundice can be a difficult clinical task in infants with pigmented skin. It is therefore important to have a low clinical threshold for obtaining a blood bilirubin measurement if there is any clinical suspicion of jaundice. The trend of early hospital discharges for babies who appear well at birth has resulted in jaundiced babies presenting in the community. Midwives should inform mothers about jaundice which is very common in newborns (although kernicterus is very rare). Jaundice is one of the commonest reasons for readmission to hospital of babies in the first week of life.

Severe jaundice is usually a result of a haemolytic process or of neonatal sepsis. In this case there was ABO blood group incompatibility, with evidence of IgG coating of the infant’s red blood cells (DAT positivity). A second cause of haemolysis was the presence of G6PD deficiency, which renders red blood cells more susceptible to oxidative injury. G6PD deficiency is inherited in a sex-linked manner (carried by the mother, with a 50% likelihood of expression in a male child) and is commoner in people of Mediterranean and black African ancestry – a jaundiced male black African infant has approximately a 35% chance of having G6PD deficiency.

Severe neonatal jaundice is a medical emergency. Blood taken at the local hospital should have been sent by courier to the regional blood transfusion centre for cross match to expedite treatment. If phototherapy units were available in the local hospital than this treatment should have been started immediately whilst awaiting an exchange transfusion, which should have been initiated in an expeditious fashion. The presenting bilirubin measurement at the local hospital was well above the exchange transfusion threshold of 450 μmol/L recommended in the NICE Guidance for babies over 42 hours old, and there was a prolonged delay in initiating effective treatment of the jaundice. In this case, the first seizure on arrival at the tertiary hospital, was thought to be due to symptomatic bilirubin encephalopathy.

Legal comment

There seem to have been a number of breaches of duty in this case, by various parts of the NHS, leading to a disastrous delay.

• The antenatal service and/or hospital nurses may not have adequately informed the mother on her discharge of some common neonatal conditions such as jaundice.
  
• The midwife who would have visited the home every 1-2 days seems not to have taken adequate note of the baby’s jaundice. Early signs seem to have been missed as by the time the midwife did refer the baby to hospital at 8 days, he was obviously very jaundiced.
  
• That hospital carried out the correct investigations and made the correct diagnosis, but did not instigate emergency treatment. Blood taken at the local hospital was not sent for an urgent cross match. Did the local hospital have facilities for immediate phototherapy? Phototherapy should have been started as soon as possible. Was the tertiary hospital told of the urgency of the situation before the baby arrived?

This sequence of events led to considerable delays and makes it inevitable that this case will be settled. Caleb’s cerebral palsy will undoubtedly be shown to be due to the delays and the damages will be very considerable.