Genetic and metabolic disorders: ataxia telangiectasia: 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: ataxia telangiectasia

Sample item

A 4-year-old has progressive gait ataxia, conjunctival telangiectasia and recurrent sinopulmonary infections. Which laboratory finding is expected?

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

The answer and the reasoning

D. Raised serum alpha-fetoprotein

Ataxia telangiectasia results from ATM gene mutation, causing defective DNA repair, cerebellar degeneration, telangiectasia, immunodeficiency with low IgA and a high risk of lymphoid cancers. Serum alpha-fetoprotein is raised in nearly all patients, and radiosensitivity makes unnecessary radiation hazardous. Inheritance is autosomal recessive.

Option by option

  • A. Low serum ceruloplasmin

    Low ceruloplasmin suggests Wilson disease or Menkes disease.

  • B. Raised serum copper

    Raised copper is not a feature, and Wilson disease would not cause telangiectasia.

  • C. Raised very long chain fatty acids

    Very long chain fatty acids are raised in peroxisomal disorders.

  • D. Raised serum alpha-fetoprotein (correct)

    Correct. Alpha-fetoprotein is raised in ataxia telangiectasia and supports the diagnosis.

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, Raised serum alpha-fetoprotein. Ataxia telangiectasia results from ATM gene mutation, causing defective DNA repair, cerebellar degeneration, telangiectasia, immunodeficiency with low IgA and a high risk of lymphoid cancers.

Why is "Low serum ceruloplasmin" not the answer?

Low ceruloplasmin suggests Wilson disease or Menkes disease.

Why is "Raised serum copper" not the answer?

Raised copper is not a feature, and Wilson disease would not cause telangiectasia.

Why is "Raised very long chain fatty acids" not the answer?

Very long chain fatty acids are raised in peroxisomal disorders.

What concept does this question test?

It tests Genetic and metabolic disorders: ataxia telangiectasia in Pediatrics. Serum alpha-fetoprotein is raised in nearly all patients, and radiosensitivity makes unnecessary radiation hazardous. Inheritance is autosomal recessive.

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: ataxia telangiectasia?

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.