Genetics: Sturge-Weber 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 · Genetics: Sturge-Weber syndrome

Sample item

A newborn has a unilateral port-wine stain on the forehead, seizures and glaucoma. What does neuroimaging typically show?

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

The answer and the reasoning

D. Ipsilateral leptomeningeal angioma with tram-track calcification

Sturge-Weber syndrome results from a somatic GNAQ mutation, causing a facial capillary malformation in the V1 distribution and a leptomeningeal angioma with gyral tram-track calcification. Seizures and hemiparesis develop. Glaucoma needs ophthalmic care.

Option by option

  • A. Subependymal nodules

    Subependymal nodules suggest tuberous sclerosis.

  • B. Periventricular calcification

    Periventricular calcification suggests CMV.

  • C. Cerebellar haemangioblastoma

    Cerebellar haemangioblastoma suggests von Hippel-Lindau disease.

  • D. Ipsilateral leptomeningeal angioma with tram-track calcification (correct)

    Correct. Leptomeningeal angioma with tram-track calcification.

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, Ipsilateral leptomeningeal angioma with tram-track calcification. Sturge-Weber syndrome results from a somatic GNAQ mutation, causing a facial capillary malformation in the V1 distribution and a leptomeningeal angioma with gyral tram-track calcification.

Why is "Subependymal nodules" not the answer?

Subependymal nodules suggest tuberous sclerosis.

Why is "Periventricular calcification" not the answer?

Periventricular calcification suggests CMV.

Why is "Cerebellar haemangioblastoma" not the answer?

Cerebellar haemangioblastoma suggests von Hippel-Lindau disease.

What concept does this question test?

It tests Genetics: Sturge-Weber syndrome in Pediatrics. Seizures and hemiparesis develop. Glaucoma needs ophthalmic care.

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 Genetics: Sturge-Weber 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.