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]