All these children had their diagnosis made on liver biopsy as infants. They have tried or are taking ursodiol, rifampin, and cholestyramine. Some are better by school age, though a small minority go to liver transplantation. When getting a liver, it's important for the anesthesiologist to know that they may have cardiac anomalies, especially peripheral pulmonic stenosis. Most have unusual vertebrae as well. Some are short, have renal disease, or have pancreatic insufficiency.
Challenge: What's the common underlying disease?
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Bile
ReplyDeleteAlagille syndrome is characterized by a paucity of interlobular bile ducts. The characteristic facies include a broad nasal bridge, triangular facies, and deep set eyes.
Source: UpToDate.