Systemic paediatrics: Alagille syndrome: practice question

A Pediatrics question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pediatrics · Systemic paediatrics: Alagille syndrome

Sample item

An infant has cholestatic jaundice, a triangular face, a posterior embryotoxon on eye examination, butterfly vertebrae and a peripheral pulmonary stenosis murmur. Which liver biopsy finding is characteristic?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

B. Paucity of interlobular bile ducts

Alagille syndrome is an autosomal dominant disorder of the Notch pathway (JAG1) with cholestasis due to a paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, butterfly vertebrae, pulmonary stenosis and renal anomalies. Management is for pruritus and nutrition, with transplant in severe disease. Biliary atresia, in contrast, shows bile duct proliferation.

Option by option

  • A. Periportal PAS-positive diastase-resistant globules

    PAS-positive globules indicate alpha-1 antitrypsin deficiency.

  • B. Paucity of interlobular bile ducts (correct)

    Correct. Paucity of interlobular bile ducts defines Alagille syndrome.

  • C. Bile duct proliferation with portal fibrosis

    Bile duct proliferation with fibrosis is seen in biliary atresia.

  • D. Macrovesicular steatosis

    Macrovesicular steatosis suggests fatty liver disease or metabolic disease, not a ductal disorder.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is B, Paucity of interlobular bile ducts. Alagille syndrome is an autosomal dominant disorder of the Notch pathway (JAG1) with cholestasis due to a paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, butterfly vertebrae, pulmonary stenosis and renal anomalies.

Why is "Periportal PAS-positive diastase-resistant globules" not the answer?

PAS-positive globules indicate alpha-1 antitrypsin deficiency.

Why is "Bile duct proliferation with portal fibrosis" not the answer?

Bile duct proliferation with fibrosis is seen in biliary atresia.

Why is "Macrovesicular steatosis" not the answer?

Macrovesicular steatosis suggests fatty liver disease or metabolic disease, not a ductal disorder.

What concept does this question test?

It tests Systemic paediatrics: Alagille syndrome in Pediatrics. Management is for pruritus and nutrition, with transplant in severe disease. Biliary atresia, in contrast, shows bile duct proliferation.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Systemic paediatrics: Alagille syndrome?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.