Genodermatoses: ataxia telangiectasia: practice question

A Dermatology 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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Dermatology · Genodermatoses: ataxia telangiectasia

Sample item

A 6-year-old has progressive gait ataxia, recurrent sinopulmonary infections and conjunctival telangiectasia. Which laboratory finding is typical?

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

The answer and the reasoning

D. Raised serum alpha-fetoprotein

Ataxia telangiectasia is an autosomal recessive disorder from ATM mutation, with cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency and a high risk of lymphoma. Serum alpha-fetoprotein is raised and radiosensitivity is marked. Neurological signs precede the telangiectasia.

Option by option

  • A. Low serum alpha-fetoprotein

    Low alpha-fetoprotein is the opposite of the finding.

  • B. Raised serum copper

    Raised copper is not a feature; copper disorders cause Wilson disease.

  • C. Raised serum ceruloplasmin

    Ceruloplasmin is low in Wilson disease, not relevant here.

  • D. Raised serum alpha-fetoprotein (correct)

    Correct. Raised alpha-fetoprotein is typical.

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 Dermatology question

What is the answer to this Dermatology question?

The best answer is D, Raised serum alpha-fetoprotein. Ataxia telangiectasia is an autosomal recessive disorder from ATM mutation, with cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency and a high risk of lymphoma.

Why is "Low serum alpha-fetoprotein" not the answer?

Low alpha-fetoprotein is the opposite of the finding.

Why is "Raised serum copper" not the answer?

Raised copper is not a feature; copper disorders cause Wilson disease.

Why is "Raised serum ceruloplasmin" not the answer?

Ceruloplasmin is low in Wilson disease, not relevant here.

What concept does this question test?

It tests Genodermatoses: ataxia telangiectasia in Dermatology. Serum alpha-fetoprotein is raised and radiosensitivity is marked. Neurological signs precede the telangiectasia.

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 Genodermatoses: ataxia telangiectasia?

Learn each condition by its primary lesion, site and signature sign. Then use the flashcards and the other Dermatology 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.