Arteriohepatic dysplasia (Alagille's syndrome): unusual hepatic architecture and function

Alagille's syndrome, also called arteriohepatic dysplasia, is a congenital anomaly consisting of hepatic, ocular, skeletal, and cardiac anomalies. The abdominal imaging findings were reviewed in eight patients with biopsy-proven Alagille's syndrome. One patient also had coexistent hepatocellular carcinoma.

Seven right upper quadrant sonograms, six hepatic CT studies, five hepatobiliary imaging studies, two hepatic MRI examinations, and two sulphur colloid liver spleen radionuclide studies were reviewed.

The most striking abnormality was gross distortion of hepatic architecture. Five patients (63%) had marked external hepatic contour abnormalities, usually with either the entire liver or lobe having a predominately spherical shape. The portal vein was displaced by the spherical parenchymal component in four cases. Three other patients demonstrated marked hepatomegaly with no external contour abnormality. Hepatobiliary imaging studies demonstrated markedly prolonged excretion of the radiopharmaceutical in three of four patients examined.

A diagnosis of Alagile's syndrome is suggested when a large, deformed and somewhat spherical liver is encountered, especially when hepatobiliary imaging studies demonstrate delayed excretion of radiopharmaceutical.