Systemic paediatrics: Bernard-Soulier 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: Bernard-Soulier syndrome

Sample item

A boy has mucosal bleeding with a platelet count of 60,000 per microlitre and giant platelets on the smear. Ristocetin does not induce aggregation, and the defect is not corrected by adding normal plasma. Which platelet defect is present?

ADeficient alpha granulesBDeficient glycoprotein Ib-IX-V receptorCDeficient dense granule contentsDDeficient glycoprotein IIb/IIIa

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

The answer and the reasoning

B. Deficient glycoprotein Ib-IX-V receptor

Bernard-Soulier syndrome is due to deficient platelet GPIb-IX-V, the receptor for von Willebrand factor, so adhesion fails. Giant platelets with mild thrombocytopenia and absent ristocetin aggregation not corrected by normal plasma distinguish it from von Willebrand disease. Platelet transfusion treats serious bleeding.

Option by option

A. Deficient alpha granules
Alpha granule deficiency causes grey platelet syndrome, with pale agranular platelets.
B. Deficient glycoprotein Ib-IX-V receptor (correct)
Correct. Loss of the vWF receptor GPIb-IX-V explains giant platelets and absent ristocetin response.
C. Deficient dense granule contents
Dense granule deficiency affects secondary aggregation and not platelet size.
D. Deficient glycoprotein IIb/IIIa
GPIIb/IIIa deficiency causes Glanzmann disease, with normal platelet size and ristocetin response.

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.

Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is B, Deficient glycoprotein Ib-IX-V receptor. Bernard-Soulier syndrome is due to deficient platelet GPIb-IX-V, the receptor for von Willebrand factor, so adhesion fails.

Why is "Deficient alpha granules" not the answer?

Alpha granule deficiency causes grey platelet syndrome, with pale agranular platelets.

Why is "Deficient dense granule contents" not the answer?

Dense granule deficiency affects secondary aggregation and not platelet size.

Why is "Deficient glycoprotein IIb/IIIa" not the answer?

GPIIb/IIIa deficiency causes Glanzmann disease, with normal platelet size and ristocetin response.

What concept does this question test?

It tests Systemic paediatrics: Bernard-Soulier syndrome in Pediatrics. Giant platelets with mild thrombocytopenia and absent ristocetin aggregation not corrected by normal plasma distinguish it from von Willebrand disease. Platelet transfusion treats serious bleeding.

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: Bernard-Soulier 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.