Metabolic: mucopolysaccharidosis: 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 · Metabolic: mucopolysaccharidosis

Sample item

A 2-year-old has coarse facies, corneal clouding, hepatosplenomegaly, joint stiffness and developmental regression. Which condition is likely?

AGaucher diseaseBHunter syndromeCMorquio syndromeDHurler syndrome (MPS I)

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

The answer and the reasoning

D. Hurler syndrome (MPS I)

Hurler syndrome is alpha-L-iduronidase deficiency with accumulation of dermatan and heparan sulphate, and corneal clouding is characteristic. Hunter syndrome (MPS II) is X-linked and lacks corneal clouding. Urinary glycosaminoglycans are raised.

Option by option

A. Gaucher disease
Gaucher disease lacks coarse facies.
B. Hunter syndrome
Hunter syndrome has clear corneas.
C. Morquio syndrome
Morquio syndrome has skeletal dysplasia with normal intelligence.
D. Hurler syndrome (MPS I) (correct)
Correct. Corneal clouding with coarse facies suggests Hurler syndrome.

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.

Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is D, Hurler syndrome (MPS I). Hurler syndrome is alpha-L-iduronidase deficiency with accumulation of dermatan and heparan sulphate, and corneal clouding is characteristic.

Why is "Gaucher disease" not the answer?

Gaucher disease lacks coarse facies.

Why is "Hunter syndrome" not the answer?

Hunter syndrome has clear corneas.

Why is "Morquio syndrome" not the answer?

Morquio syndrome has skeletal dysplasia with normal intelligence.

What concept does this question test?

It tests Metabolic: mucopolysaccharidosis in Pediatrics. Hunter syndrome (MPS II) is X-linked and lacks corneal clouding. Urinary glycosaminoglycans are raised.

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 Metabolic: mucopolysaccharidosis?

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.