Alagille syndrome

(Danielle Alagille, born 1925, French paediatrician), syndrome that typically presents with cholestatic jaundice in the neonatal period due to hypoplasia of the intralobular bile ducts. Associated abnormalities are facial dysmorphism, with a triangular face and low set ears, pulmonary stenosis and vertebral abnormalities and eye anomalies which include pigment clumping, chorioretinal atropy and posterior embryotoxon. Cytogenetic abnormalities are common.

Butterfly vertebrae, or fused vertebrae are found on spinal radiographs. The liver echodensity may be increased at ultrasound examination but it is structurally normal. Radionuclide imaging shows slow bile excretion.

The diagnosis is made by the demonstration of three of the five major manifestations: facial abnormalities, cholestasis, peripheral pulmonary artery stenosis or hypoplasia, posterior ocular embryotoxon and butterfly vertebrae. See arteriohepatic dysplasia

HC