Alagille Syndrome: Outcome After Kasai Procedure

Background: Alagille syndrome(AS) is a progressive multi-systemic disorder. Jaundice is the most common presentation and is indistinguishable from other causes of cholestasis especially biliary atresia which can lead to inappropriate management.

Objective: To report the poor outcome factors in a patient with AS who underwent a hepatoenterostomy

The patient presented at 2 months of age with jaundice and clay stools since birth. She was a product of non-consanguineous marriage. She fulfilled 3 out 5 major clinical criteria: jaundice, peripheral pulmonary stenosis and ASD, butterfly vertebra and later the characteristic facial dysmorphy. Hepatobiliary iminodiacetic acid (HIDA) scan showed absence of excretion of the radiotracer up to 24 hours.Surgical exploration revealed a distended gall bladder containing a light bilious fluid, the presence of the common bile and cystic duct and a small hypoplastic structure suspected to be the hepatic duct. Intraoperative cholangiogram showed a flow reaching duodenum but when obstructed distallythere was no flow into the liver.The patient underwent a Kasai procedure. The liver biopsy didn’t demonstrate bile duct paucity but focal areas of ductular proliferation and periportalballooning degeneration.Patient developed a progressive course with worsening of her hepatopathy and cardiac condition and severe growth failure and developmental delay. She passed away at the age of 2 and half years without being sick at the time.

Conclusion: Our patient displayed an overlapping clinical, imaging and histologic features suggestive of biliary atresia. Kasai procedure and other factors contributed to her poor outcome. Clinicians should have a high index of clinical suspicion and a low threshold for genetic testing to avoid inappropriate surgical intervention since it is associated with high mortality.