Conjugated jaundice and neonatal cholestasis: Case

This infant presents the pathognomonic triad of biliary atresia: acholic (pale, chalky) stools, dark urine staining the nappy, and progressive jaundice in an infant who initially appeared well. The conjugated bilirubin fraction of 140 micromol per litre (70 per cent of total) is well above the threshold of 17 micromol per litre or 20 per cent of total, confirming cholestasis, which is always pathological. The failure to thrive and firm hepatomegaly support evolving liver disease. [1]

Clinical findings

The clinical picture is highly suggestive of biliary atresia. The pale, chalky stools indicate absent bile pigment reaching the gut, and the dark, nappy-staining urine indicates renal excretion of water-soluble conjugated bilirubin. The firm hepatomegaly reflects the progressive obliterative fibrosclerosis of the extrahepatic bile ducts with developing portal fibrosis. The differential diagnosis includes choledochal cyst, bile-plug syndrome, neonatal hepatitis from cytomegalovirus, alpha-1-antitrypsin deficiency, galactosaemia, tyrosinaemia, and Alagille syndrome, but the pale stools and dark urine point most strongly to an obstructive cause. [2]

Investigations and surgery

The diagnostic workup runs as a focused panel. Alongside the split bilirubin, send a full liver panel including gamma-glutamyl transferase, which is typically high in biliary atresia, coagulation studies, and the metabolic and infective panel to exclude alternative diagnoses. Check the coagulation profile urgently and give intravenous vitamin K 1 milligram if the international normalised ratio is prolonged, before any invasive procedure. A fasted abdominal ultrasound may show a small or absent gallbladder and the triangular cord sign, but a normal ultrasound does not exclude biliary atresia. The definitive test is an intraoperative cholangiogram, which demonstrates the absent or atretic extrahepatic biliary tree, and a liver biopsy shows bile-duct proliferation, portal fibrosis, and bile plugs. [1]

Once biliary atresia is confirmed, the definitive treatment is a Kasai portoenterostomy performed at the same anaesthetic, excising the fibrotic bile-duct remnant and anastomosing a Roux-en-Y jejunal loop to the denuded liver surface. At five weeks of age this infant is within the optimal window for surgery, and prompt referral to the regional paediatric hepatology and surgical centre is essential. [3]

Postoperative care and prognosis

Postoperatively, management aims to maximise bile drainage and prevent complications. Ursodeoxycholic acid improves bile flow, antibiotic prophylaxis against ascending cholangitis is continued for months, and nutritional support with a medium-chain triglyceride formula and fat-soluble vitamin supplementation addresses the malabsorption of cholestasis. Families must be educated that fever is a red flag for cholangitis, because each attack erodes native-liver survival. [3]

The dominant determinant of outcome is the age at Kasai operation: native-liver survival is best before 30 to 40 days and falls with each additional week. Approximately 30 to 50 per cent of biliary atresia patients retain their native liver at 10 years, but about 70 to 80 per cent ultimately require liver transplantation, which remains the salvage therapy for failed Kasai or end-stage disease. Long-term native-liver survivors need lifelong surveillance with ultrasound and alpha-fetoprotein for hepatocellular carcinoma and monitoring for portal hypertension. [3]