Genetic and metabolic disorders: leukocyte adhesion deficiency: 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: leukocyte adhesion deficiency

Sample item

An infant has delayed umbilical cord separation at 5 weeks, omphalitis and recurrent skin infections without pus formation. The blood count shows marked neutrophilia. What is the likely diagnosis?

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

The answer and the reasoning

D. Leukocyte adhesion deficiency type 1

Leukocyte adhesion deficiency type 1, from CD18 integrin deficiency, prevents neutrophils from leaving blood vessels, so the cord separates late, infections occur without pus and neutrophil counts are very high. Bone marrow transplantation can cure it. In chronic granulomatous disease neutrophils reach the site but cannot kill.

Option by option

  • A. Cyclic neutropenia

    Cyclic neutropenia gives periodic low neutrophil counts, not neutrophilia.

  • B. Chronic granulomatous disease

    Chronic granulomatous disease forms granulomas and abscesses and has normal cord separation.

  • C. Severe combined immunodeficiency

    Severe combined immunodeficiency shows lymphopenia rather than neutrophilia.

  • D. Leukocyte adhesion deficiency type 1 (correct)

    Correct. Late cord separation with neutrophilia and pus-free infections indicates CD18 deficiency.

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, Leukocyte adhesion deficiency type 1. Leukocyte adhesion deficiency type 1, from CD18 integrin deficiency, prevents neutrophils from leaving blood vessels, so the cord separates late, infections occur without pus and neutrophil counts are very high.

Why is "Cyclic neutropenia" not the answer?

Cyclic neutropenia gives periodic low neutrophil counts, not neutrophilia.

Why is "Chronic granulomatous disease" not the answer?

Chronic granulomatous disease forms granulomas and abscesses and has normal cord separation.

Why is "Severe combined immunodeficiency" not the answer?

Severe combined immunodeficiency shows lymphopenia rather than neutrophilia.

What concept does this question test?

It tests Genetic and metabolic disorders: leukocyte adhesion deficiency in Pediatrics. Bone marrow transplantation can cure it. In chronic granulomatous disease neutrophils reach the site but cannot kill.

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: leukocyte adhesion deficiency?

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.