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,