Genetic and metabolic disorders: Chediak-Higashi 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: Chediak-Higashi syndrome

Sample item

A 3-year-old has silvery-grey hair, pale skin with photophobia, recurrent pyogenic infections and a mild bleeding tendency. Which abnormality is most likely on the peripheral blood smear?

AGiant cytoplasmic granules in neutrophilsBHypersegmented neutrophilsCHeinz bodies in red cellsDBasophilic stippling in red cells

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

The answer and the reasoning

A. Giant cytoplasmic granules in neutrophils

Chediak-Higashi syndrome is a LYST mutation disorder of lysosomal trafficking. It causes partial oculocutaneous albinism with silvery hair, recurrent infections and bleeding from platelet storage pool defects. Giant granules in leucocytes are diagnostic, and an accelerated haemophagocytic phase may follow.

Option by option

A. Giant cytoplasmic granules in neutrophils (correct)
Correct. Giant cytoplasmic granules in leucocytes are the hallmark of Chediak-Higashi syndrome.
B. Hypersegmented neutrophils
Hypersegmented neutrophils occur in megaloblastic anaemia from vitamin B12 or folate deficiency.
C. Heinz bodies in red cells
Heinz bodies occur in G6PD deficiency and unstable haemoglobins, not with albinism.
D. Basophilic stippling in red cells
Basophilic stippling occurs in lead poisoning and thalassaemia, not with albinism and infections.

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 A, Giant cytoplasmic granules in neutrophils. Chediak-Higashi syndrome is a LYST mutation disorder of lysosomal trafficking.

Why is "Hypersegmented neutrophils" not the answer?

Hypersegmented neutrophils occur in megaloblastic anaemia from vitamin B12 or folate deficiency.

Why is "Heinz bodies in red cells" not the answer?

Heinz bodies occur in G6PD deficiency and unstable haemoglobins, not with albinism.

Why is "Basophilic stippling in red cells" not the answer?

Basophilic stippling occurs in lead poisoning and thalassaemia, not with albinism and infections.

What concept does this question test?

It tests Genetic and metabolic disorders: Chediak-Higashi syndrome in Pediatrics. It causes partial oculocutaneous albinism with silvery hair, recurrent infections and bleeding from platelet storage pool defects. Giant granules in leucocytes are diagnostic, and an accelerated haemophagocytic phase may follow.

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: Chediak-Higashi 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.