Pathophysiology
infantile intrahepatic cholestasis owing to an interstitial gene deletion on chromosome 20
Signs and Symptoms
1) broad forehead 2) deep-set eyes 3) bulbous nose 4) butterfly vertebrae 5) pulmonic stenosis
Histology/Gross Pathology
paucity of intrahepatic bile ducts
Inheritance/Epidemiology
1) both autosomal dominant and sporadic cases are reported 2) occurs in 1/70,000 3) deletion is on chromosome 20 (p11.23)
Treatment
Liver transplantation
Tips for USMLE
If question mentions infant with increased bilirubin, must consider Alagille’s, Gilbert’s, Crigler-Najjar, and Dubin’s syndromes
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