A 2-year-old girl with cholestatic jaundice since infancy has an elongated face, deep-set eyes, broad forehead, pointed chin, and a systolic ejection murmur along the left upper sternal border. Slit-lamp examination shows posterior embryotoxon. Which structure is characteristically malformed in her underlying condition?

• A Pancreatic acini
• B Intrahepatic bile ducts ✓
• C Renal glomeruli
• D Hepatocytes

Explanation

Alagille syndrome, caused by JAG1 or NOTCH2 mutation, combines chronic cholestasis from paucity of intrahepatic bile ducts with peripheral pulmonary artery stenosis (the murmur), characteristic facies, posterior embryotoxon of the eye, and butterfly vertebrae. The duct paucity rather than hepatocyte disease explains the cholestasis, and renal involvement, when present, affects tubules rather than glomeruli.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.