This occurs in 1 in 14 000 live births. It is a progressive disease, in which there is destruction or absence of the extrahepatic biliary tree and intrahepatic biliary ducts. This leads to chronic liver failure and death unless surgical intervention is performed. Babies with biliary atresia have a normal birthweight but fail to thrive as the disease progresses. They are usually mildly jaundiced and, following passage of meconium, their stools are pale and their urine dark. Although stool colour may fluctuate, pale stools is an important abnormality and warrants investigation, even in the absence of clinical jaundice. Hepatomegaly is often present and splenomegaly will develop secondary to portal hypertension.

Standard liver function tests are of little value in the differential diagnosis. A fasting abdominal ultrasound may demonstrate a contracted or absent gallbladder, though it may be normal. A radioisotope scan with TIBIDA (iminodiacetic acid derivatives) shows good uptake by the liver, but no excretion into the bowel. Liver biopsy demonstrates features of extrahepatic biliary obstruction, although features may overlap with those of neonatal hepatitis, especially if carried out at an early stage of the disease. The diagnosis is confirmed at laparotomy by operative cholangiography which fails to outline a normal biliary tree.

Treatment consists of surgical bypass of the fibrotic ducts, hepatoportoenterostomy (Kasai procedure), in which a loop of jejunum is anastomosed to the cut surface of the porta hepatis, facilitating drainage of bile from any remaining patent ductules. If surgery is performed before the age of 60 days, 80% of children achieve bile drainage. The success rate diminishes with increasing age – hence the need for early diagnosis and treatment. Postoperative complications include cholangitis and malabsorption of fats and fat-soluble vitamins. Even when bile drainage is successful, there is frequently progression to cirrhosis and portal hypertension. If the operation is unsuccessful, liver transplantation has to be considered. Biliary atresia is the single most common indication for liver transplantation in the paediatric age group.

Neonatal hepatitis syndrome

In neonatal hepatitis syndrome, there is prolonged neonatal jaundice and hepatic inflammation. Its causes are listed in Box 20.1, but often no specific cause is identified. In contrast to biliary atresia, these infants may have intrauterine growth restriction and hepatosplenomegaly at birth. Liver biopsy (Fig. 20.6) is often non-specific, demonstrating a giant cell hepatitis.

α₁-Antitrypsin deficiency

Deficiency of the protease α₁-antitrypsin is associated with liver disease in infancy and childhood and emphysema in adults. It is inherited as an autosomal recessive disorder with an incidence of 1 in 2000–4000 in the UK. There are many phenotypes of the protease inhibitor (Pi) which are coded on chromosome 14. Liver disease is primarily associated with the phenotype PiZZ.

Case History

20.1 Biliary atresia

A term infant was given oral vitamin K shortly after birth. He was breast-fed. He became mildly jaundiced on the third day of life. At 5 weeks of age, he presented with poor feeding and vomiting and a history of bruising on his forehead and shoulders. His urine had become dark and stools intermittently pale. He was pale, jaundiced, had several bruises and hepatomegaly. Investigations showed:

• Hb 8.8 g/L

• Platelets 465 × 10⁹/L

• Prothrombin time – 28 s (normal range 10–13 s)

• Serum bilirubin 178 micromol/L – 140 micromol/L conjugated.

The investigation of conjugated hyperbilirubinaemia is shown in Figure 20.2. The TIBIDA radionuclide scan showed no excretion at 24 h (Fig. 20.3) and a liver biopsy suggested biliary atresia (Fig. 20.4). A hepatoportoenterostomy was performed at 6 weeks of age (Fig. 20.5).

In persistent neonatal jaundice, early diagnosis of biliary atresia improves the prognosis.

 In persistent jaundice, always look to see if the stools are pale – suggests bile duct obstruction.

The majority of children who present with α₁-antitrysin deficiency will either have prolonged neonatal jaundice or, less commonly, bleeding due to vitamin K deficiency (haemorrhagic disease of the newborn). Hepatomegaly is present. Splenomegaly develops with cirrhosis and portal hypertension. The diagnosis is confirmed by estimating the level of α₁-antitrypsin in the plasma and identifying the phenotype. Approximately 50% of children have a good prognosis, but the remainder will develop liver disease and may require transplantation. Pulmonary disease is not significant in childhood, but is likely to develop in adult life. Advice to avoid smoking (both active and passive) should be given. The disorder can be diagnosed antenatally.

Other causes

Neonatal hepatitis may occur following prolonged parenteral nutrition. Rare causes include tyrosinaemia type 1, cystic fibrosis, lipid and glycogen storage disorders, peroxisomal disorders, inborn errors of bile acid synthesis and progressive familial intrahepatic cholestasis (PFIC).

Inborn errors of bile acid synthesis

Patients presenting with neonatal cholestasis of infancy and normal levels of gamma glutamyl transferase (GGT) should be screened for elevated cholenoic bile acids in urine. Diagnosis is confirmed by mass spectrometry of urine for bile acids. Specific treatment is with ursodeoxycholic acid.

Progressive familial intrahepatic cholestasis (PFIC)

This is a heterogeneous group of cholestatic disorders of bile transporter defects caused by recessive mutations in different genes. Children present with jaundice, intense pruritus, diarrhoea with failure to thrive, rickets and a variable progression of liver disease. In two forms of the disorder, the gamma glutamyl transferase (GGT) is low. Prognosis is variable; some children require liver transplantation.

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