CTICasesAlagille Syndrome
Imaging findings
Contrast-enhanced chest CT and MRA in a child demonstrate severe, bilateral, and diffuse hypoplasia of the main and branch pulmonary arteries, with focal areas of peripheral stenosis, particularly at the origin of the left upper lobe branch. The child also has clinical cholestasis.
Key takeaways
Alagille syndrome is an autosomal dominant congenital disorder caused by mutations in the JAG1 or NOTCH2 genes. The classic features include neonatal cholestasis (due to paucity of interlobular bile ducts), butterfly vertebrae, characteristic facies, and cardiovascular anomalies. Peripheral pulmonary artery stenosis and hypoplasia are the most common cardiac manifestations, often requiring repeat balloon angioplasties.
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