Genetics: tuberous sclerosis: 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: tuberous sclerosis

Sample item

A 6-month-old has infantile spasms, hypopigmented ash-leaf macules and cardiac rhabdomyomas. Which drug is the first-line treatment for the spasms in this condition?

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

The answer and the reasoning

B. Vigabatrin

Tuberous sclerosis is caused by TSC1 or TSC2 mutations, with cortical tubers, rhabdomyomas, facial angiofibromas and renal angiomyolipomas. Vigabatrin is especially effective for infantile spasms in this disease. Everolimus is used for subependymal giant cell astrocytoma.

Option by option

  • A. Carbamazepine

    Carbamazepine may aggravate spasms.

  • B. Vigabatrin (correct)

    Correct. Vigabatrin is preferred in tuberous sclerosis.

  • C. Ethosuximide

    Ethosuximide is for absence seizures.

  • D. Phenytoin

    Phenytoin is not effective for infantile spasms.

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 B, Vigabatrin. Tuberous sclerosis is caused by TSC1 or TSC2 mutations, with cortical tubers, rhabdomyomas, facial angiofibromas and renal angiomyolipomas.

Why is "Carbamazepine" not the answer?

Carbamazepine may aggravate spasms.

Why is "Ethosuximide" not the answer?

Ethosuximide is for absence seizures.

Why is "Phenytoin" not the answer?

Phenytoin is not effective for infantile spasms.

What concept does this question test?

It tests Genetics: tuberous sclerosis in Pediatrics. Vigabatrin is especially effective for infantile spasms in this disease. Everolimus is used for subependymal giant cell astrocytoma.

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: tuberous sclerosis?

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.