Case 10 An infant with persistent jaundice
Estelle, a female infant, born at 34 weeks gestation, weighing 1.75 kg is the first of dichorionic, diamniotic twin girls. It is the mother’s first pregnancy. Estelle’s mother is of African ethnicity, and her father is Caucasian. Estelle is born by Caesarean section and is in good condition at birth. She receives intramuscular vitamin K. She is initially nasogastrically fed with expressed breast milk.
At 4 days of age, Estelle is noted to be jaundiced, with a serum total bilirubin of 270 μmol/L, and requires phototherapy for 2 days. Her blood group is A, Rhesus D positive, DAT negative.
She is discharged home aged 10 days, still partially nasogastrically fed, weighing 2.2 kg (on the 25th centile for gestation). She is minimally jaundiced.
At 3 weeks of age, Estelle presents to her GP with vomiting after feeds. Her weight is static at 2.2 kg and she is slightly jaundiced.
What other information do you need? What is your differential diagnosis?
The GP diagnoses gastro-oesophageal reflux, and prescribes infant Gaviscon with feeds. The GP notes the jaundice, but as it is less than previously and mild she is not concerned.
What follow-up is required?
At 12 weeks of age (6 weeks corrected age), Estelle is brought to the ED. Her mother is concerned that she is not gaining weight as well as her twin sister, and is ‘a miserable baby’.
Estelle’s weight is 2.3 kg (below the 0.4th Centile), she looks anxious and thin, and appears mildly jaundiced. There is no organomegaly. The serum total bilirubin is 127 μmol/L.
What is the working diagnosis?
Estelle is reviewed by the Paediatric Registrar, who notes that her nappy appears stained with dark urine, and that she has stools ‘the colour of clotted cream’. The registrar is concerned about the possibility of an obstructive jaundice, and takes blood for LFTs, split bilirubin, glucose and clotting. An urgent liver US is arranged.
Results
| Normal | ||
| Total bilirubin | 130 μmol/L | 2–26 μmol/L |
| Conjugated bilirubin | 105 μmol/L | <15% total bilirubin |
| Albumin | 38 g/L | 37–50 g/L |
| Alkaline phosphatase | 650 U/L | 145–420 |
| ALT | 40 U/L | 10–40 U/L |
| Blood glucose | 3.0 mmol/L | 3.5–7.0 mmol/L |
| Clotting: normal | ||
| Liver ultrasound (pre-feed) – no gallbladder seen, moderately dilated intrahepatic bile ducts | ||
What should you do next?
An urgent referral is made to the Paediatric liver unit. Further investigations confirm the diagnosis of extrahepatic biliary atresia, and a Kasai portoenterostomy is performed at 14 weeks of age (8 weeks corrected age).
The bilirubin falls, the stools became pigmented, and Estelle begins to gain weight. Her first year is complicated by two episodes of ascending cholangitis, treated rapidly with iv antibiotics. At 4 years of age, Estelle is found to have portal hypertension and evidence of cirrhosis.
Estelle’s mother complains, stating that the initial delay in diagnosis caused the Kasai procedure to be delayed and the surgical result to be suboptimal, and that this has increased her risk of requiring an early liver transplant.
Expert opinion
Jaundice is common in preterm babies, but in the absence of haemolysis or sepsis usually resolves. Jaundice in a preterm baby persisting for longer than 3 weeks (2 weeks in term infants) is defined as ‘prolonged jaundice’. If the conjugated bilirubin fraction is ≥20 μmol/L and >20% of the total bilirubin then investigations for possible liver disease should be instigated urgently.
Skin pigmentation can impair the clinical assessment of jaundice, but dark urine and pale stools are cardinal signs of biliary obstruction, for which a cause must be found promptly. These signs were not asked about by the GP. Biliary atresia can present with a total bilirubin well below the phototherapy threshold, as seen in Estelle.
Vomiting is a relatively common neonatal symptom, but failure to gain weight, particularly in a preterm baby, requires investigation and this sign should have been taken more seriously. Infants who are failing to thrive should be followed up assiduously.
The outcome of surgical treatment of Biliary Atresia is related to the age at surgery, with the best outcomes in those operated on before 30 days of age, although the majority of patients with Biliary Atresia will eventually require liver transplantation.
Legal comment
The hospital’s decision to discharge Estelle at 10 days of age when she was minimally jaundiced but gaining weight does not seem to attract the criticism of the expert. The chief criticism is reserved for the GP who saw Estelle at 3 weeks of age, when she was suffering from ‘prolonged jaundice’. The GP failed to ask relevant questions about the urine and stools and failed to investigate the jaundice.
The result of these failures was that the biliary atresia was not investigated for another nine weeks, and not treated for two weeks after that. The outcome is said to have been ‘suboptimal’.
The hospital can deny all liability in this case. The GP’s lawyers (who will be appointed by her MDO) will investigate the probable outcome of an earlier Kasai portoenterostomy, and will negotiate a settlement based on the extent to which the baby’s future pain and suffering might have been avoided. However, since the majority of patients with this diagnosis do go on to need a liver transplant, the GP will probably not have to compensate Estelle for all her future pain and suffering.
