Synonyms:

Arteriohepatic dysplasia

Diagnosis:

Genetics:

• Autosomal dominant
• JAG1 gene Chr. 20p, jagged1

Clinical features and investigations:

Syndrome of involvement of Liver:

• LFTs: cholestasis,

Ultrasound, MRCP: intrahepatic bile duct paucity
+other systems including:

• Heart: coarctation of the aorta, aortic aneurysm
• Eyes: anterior chamber defects, posterior embryotoxon
• Face: frontal bossing, deep set eyes, bulbos nose tip, pointed chin
• Skeleton: butterfly vertebra

Other test:

• CTPA: pulmonary artery abnormalities
• Ultrasound: Renal stenosis
• MRI, MRA brain: moyamoya syndrome, aneurysms (basilar, MCA), asymptomatic hemorrhages,