Skeletal dysplasias: Hurler syndrome: practice question

A Orthopaedics 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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Orthopaedics · Skeletal dysplasias: Hurler syndrome

Sample item

A 2-year-old has coarse facies, corneal clouding, hepatosplenomegaly, a thoracolumbar gibbus and radiographs showing oar-shaped ribs and beaked vertebrae. Which diagnosis fits?

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

The answer and the reasoning

C. Hurler syndrome (mucopolysaccharidosis I)

Hurler syndrome is a lysosomal storage disease caused by deficiency of alpha-L-iduronidase. The skeletal changes are called dysostosis multiplex and include oar-shaped ribs, beaked vertebrae and a thoracolumbar gibbus. Other features are corneal clouding, organomegaly and developmental delay.

Option by option

  • A. Osteogenesis imperfecta

    Osteogenesis imperfecta causes brittle bones and blue sclerae.

  • B. Cleidocranial dysplasia

    Cleidocranial dysplasia causes absent clavicles and delayed fontanelle closure.

  • C. Hurler syndrome (mucopolysaccharidosis I) (correct)

    Correct. Dysostosis multiplex with corneal clouding and organomegaly fits Hurler syndrome.

  • D. Achondroplasia

    Achondroplasia causes rhizomelic dwarfism with normal intelligence and no corneal clouding.

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 Orthopaedics question

What is the answer to this Orthopaedics question?

The best answer is C, Hurler syndrome (mucopolysaccharidosis I). Hurler syndrome is a lysosomal storage disease caused by deficiency of alpha-L-iduronidase.

Why is "Osteogenesis imperfecta" not the answer?

Osteogenesis imperfecta causes brittle bones and blue sclerae.

Why is "Cleidocranial dysplasia" not the answer?

Cleidocranial dysplasia causes absent clavicles and delayed fontanelle closure.

Why is "Achondroplasia" not the answer?

Achondroplasia causes rhizomelic dwarfism with normal intelligence and no corneal clouding.

What concept does this question test?

It tests Skeletal dysplasias: Hurler syndrome in Orthopaedics. The skeletal changes are called dysostosis multiplex and include oar-shaped ribs, beaked vertebrae and a thoracolumbar gibbus. Other features are corneal clouding, organomegaly and developmental delay.

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 Skeletal dysplasias: Hurler syndrome?

Pair each fracture with its classic complication and nerve injured. Then use the flashcards and the other Orthopaedics 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.