Genetic and metabolic disorders: Wiskott-Aldrich 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: Wiskott-Aldrich syndrome

Sample item

A 1-year-old boy has eczema, recurrent otitis media and prolonged bleeding after a minor injury. The platelet count is low and the platelets are small. What is the diagnosis?

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

The answer and the reasoning

D. Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome is an X-linked disorder with microthrombocytopenia, eczema and recurrent infections, caused by WAS gene mutations. It also carries a risk of autoimmunity and lymphoma. Bone marrow transplantation is curative.

Option by option

  • A. Bruton agammaglobulinaemia

    Bruton disease causes recurrent bacterial infections without eczema or thrombocytopenia.

  • B. Chediak-Higashi syndrome

    Chediak-Higashi syndrome has partial albinism and giant granules in white cells.

  • C. DiGeorge syndrome

    DiGeorge syndrome has hypocalcaemia, cardiac defects and absent thymus.

  • D. Wiskott-Aldrich syndrome (correct)

    Correct. Eczema, infections and small platelets with thrombocytopenia define the syndrome.

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 D, Wiskott-Aldrich syndrome. Wiskott-Aldrich syndrome is an X-linked disorder with microthrombocytopenia, eczema and recurrent infections, caused by WAS gene mutations.

Why is "Bruton agammaglobulinaemia" not the answer?

Bruton disease causes recurrent bacterial infections without eczema or thrombocytopenia.

Why is "Chediak-Higashi syndrome" not the answer?

Chediak-Higashi syndrome has partial albinism and giant granules in white cells.

Why is "DiGeorge syndrome" not the answer?

DiGeorge syndrome has hypocalcaemia, cardiac defects and absent thymus.

What concept does this question test?

It tests Genetic and metabolic disorders: Wiskott-Aldrich syndrome in Pediatrics. It also carries a risk of autoimmunity and lymphoma. Bone marrow transplantation is curative.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. 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: Wiskott-Aldrich 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.