Genetic and metabolic disorders: mitochondrial disease: 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: mitochondrial disease

Sample item

A 3-year-old has developmental regression, ataxia, and bilateral basal ganglia lesions on MRI, with raised blood and CSF lactate. Which diagnosis is most likely?

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

The answer and the reasoning

A. Leigh disease (subacute necrotising encephalomyelopathy)

Mitochondrial disorders such as MELAS and Leigh disease cause multisystem involvement with raised lactate. Leigh disease presents in infancy or early childhood with regression, brainstem and basal ganglia lesions.

Option by option

  • A. Leigh disease (subacute necrotising encephalomyelopathy) (correct)

    Correct. Basal ganglia lesions with lactate point to Leigh disease.

  • B. Rett syndrome

    Rett syndrome affects girls with hand-wringing and normal lactate.

  • C. Tay-Sachs disease

    Tay-Sachs shows cherry-red spot and hyperacusis.

  • D. Krabbe disease

    Krabbe disease causes irritability and optic atrophy with globoid cells.

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, Leigh disease (subacute necrotising encephalomyelopathy). Mitochondrial disorders such as MELAS and Leigh disease cause multisystem involvement with raised lactate.

Why is "Rett syndrome" not the answer?

Rett syndrome affects girls with hand-wringing and normal lactate.

Why is "Tay-Sachs disease" not the answer?

Tay-Sachs shows cherry-red spot and hyperacusis.

Why is "Krabbe disease" not the answer?

Krabbe disease causes irritability and optic atrophy with globoid cells.

What concept does this question test?

It tests Genetic and metabolic disorders: mitochondrial disease in Pediatrics. Leigh disease presents in infancy or early childhood with regression, brainstem and basal ganglia lesions.

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: mitochondrial disease?

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.