Genetic and metabolic disorders: Shwachman-Diamond 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 · Genetic and metabolic disorders: Shwachman-Diamond syndrome

Sample item

A 10-month-old has failure to thrive with bulky, foul-smelling stools, recurrent infections and an absolute neutrophil count of 400 per microlitre. Sweat chloride is normal, and radiographs show metaphyseal widening of the long bones. What is the most likely diagnosis?

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

The answer and the reasoning

A. Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SBDS gene) combines exocrine pancreatic insufficiency, neutropenia and metaphyseal dysostosis, with a leukaemia risk. Cystic fibrosis is excluded by a normal sweat test.

Option by option

  • A. Shwachman-Diamond syndrome (correct)

    Correct. Pancreatic insufficiency, neutropenia and metaphyseal changes with a normal sweat test fit Shwachman-Diamond syndrome.

  • B. Pearson marrow-pancreas syndrome

    Pearson syndrome presents with sideroblastic anaemia and vacuolated marrow precursors from mitochondrial DNA deletion.

  • C. Johanson-Blizzard syndrome

    Johanson-Blizzard syndrome has hypoplastic nasal alae, deafness and scalp defects with pancreatic insufficiency, but not neutropenia.

  • D. Cystic fibrosis

    Cystic fibrosis has a raised sweat chloride and no neutropenia or metaphyseal dysostosis.

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 A, Shwachman-Diamond syndrome. Shwachman-Diamond syndrome (SBDS gene) combines exocrine pancreatic insufficiency, neutropenia and metaphyseal dysostosis, with a leukaemia risk.

Why is "Pearson marrow-pancreas syndrome" not the answer?

Pearson syndrome presents with sideroblastic anaemia and vacuolated marrow precursors from mitochondrial DNA deletion.

Why is "Johanson-Blizzard syndrome" not the answer?

Johanson-Blizzard syndrome has hypoplastic nasal alae, deafness and scalp defects with pancreatic insufficiency, but not neutropenia.

Why is "Cystic fibrosis" not the answer?

Cystic fibrosis has a raised sweat chloride and no neutropenia or metaphyseal dysostosis.

What concept does this question test?

It tests Genetic and metabolic disorders: Shwachman-Diamond syndrome in Pediatrics. Cystic fibrosis is excluded by a normal sweat test.

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 Genetic and metabolic disorders: Shwachman-Diamond 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.