Abstract

Alagille syndrome (AS) commonly presents with cholestasis, much like other liver diseases, making the diagnosis challenging. We report a case of a patient with AS mimicking biliary atresia (BA) with a poor outcome. The infant, a product of a non-consanguineous marriage, presented with jaundice, clay stools, peripheral pulmonary stenosis, atrial septal defect, and butterfly vertebrae. Cholescintigraphy showed an absence of radiotracer excretion. Surgical exploration revealed the presence of a hypoplastic hepatic duct but a normal gallbladder, cystic, and common bile ducts. Intraoperative cholangiogram favored BA, and a Kasai procedure was performed. The liver biopsy demonstrated focal areas of ductular proliferation and periportal ballooning degeneration without bile duct paucity. The patient exhibited worsening cardiac and liver conditions, growth failure, and developmental delay. She died suddenly at home at the age of 34 months. The cholangiographic and histological abnormalities found in our patient were suggestive of BA. At the same time, she displayed four out of five diagnostic criteria for AS. Based on our experience with this case, we suggest expeditious genetic testing should be considered for any case of neonatal cholestasis with diagnostic uncertainty. This may help avoid unwarranted surgical interventions, potentially associated with worse outcomes.

Keywords: Alagille syndrome, Liver, Bile duct paucity, Cholestasis, Kasai procedure