Pediatric emergency medicine trisk 2080 2080
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Classic Alagille syndrome criteria
1. Bile duct paucity plus
2. 3 of 5 major criteria:
• “Alagille Facies”
• Cholestasis (conjugated hyperbilirubinemia)
• Congenital heart disease
• Vertebral anomalies
• Ocular anomalies
Additional clinical characteristics
Hepatic: chronic cholestasis, portal hypertension, liver fibrosis, liver
cirrhosis, liver failure, hepatocellular carcinoma
Cardiac: tetralogy of Fallot, pulmonic valve stenosis, pulmonary atresia,
truncus arteriosus, aortic stenosis, ASD and VSD
Ocular: posterior embryotoxon, Axenfeld anomaly, Rieger anomaly,
congenital macular dystrophy, cataracts, exotropia, strabismus, retinal
fundus hypopigmentation
Vertebral: butterfly vertebrae, shortened digits, spina bifida occulta, fusion
of adjacent vertebrae, rickets, osteopenia/osteoporosis, pathologic
fractures
Facial features: prominent forehead, macrocephaly, hypertelorism, deep set
eyes, upslanting palpebral fissures, depressed nasal bridge, sinus
abnormalities, large ears
Renal: renal tubular acidosis, renal insufficiency,
small/ectopic/horseshoe/single kidneys, renal cysts
Vascular: stroke, intracranial bleeding, cerebral artery anomalies, vascular
malformations, moyamoya syndrome, renal artery stenosis
Endocrine: pancreatic exocrine insufficiency, insulin-dependent diabetes
mellitus, hypogonadism
Gastrointestinal: malabsorption, failure to thrive, malrotation, microcolon,
atresia
Other: growth retardation, mental retardation, learning difficulties
