MSK imaging: Gaucher disease: practice question

A Radiology 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.

Try it

Radiology · MSK imaging: Gaucher disease

Sample item

A young adult with splenomegaly and pancytopenia has bone pain. A femur radiograph shows widening of the distal metaphysis with a flask shape and patchy lucent and sclerotic areas, and the hip shows a collapsed femoral head. What is the diagnosis?

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

The answer and the reasoning

D. Gaucher disease

Glucocerebroside-laden macrophages infiltrate the marrow, causing Erlenmeyer flask deformity, bone infarcts and avascular necrosis of the femoral head, with splenomegaly. Enzyme replacement is the treatment.

Option by option

  • A. Paget disease

    Paget disease shows cortical thickening and bone enlargement in older adults.

  • B. Osteopetrosis

    Osteopetrosis shows uniformly dense bones.

  • C. Fibrous dysplasia

    Fibrous dysplasia shows ground glass lesions.

  • D. Gaucher disease (correct)

    Correct. Flask deformity, avascular necrosis and splenomegaly suggest Gaucher disease.

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.

More Radiology questions

Questions about this Radiology question

What is the answer to this Radiology question?

The best answer is D, Gaucher disease. Glucocerebroside-laden macrophages infiltrate the marrow, causing Erlenmeyer flask deformity, bone infarcts and avascular necrosis of the femoral head, with splenomegaly.

Why is "Paget disease" not the answer?

Paget disease shows cortical thickening and bone enlargement in older adults.

Why is "Osteopetrosis" not the answer?

Osteopetrosis shows uniformly dense bones.

Why is "Fibrous dysplasia" not the answer?

Fibrous dysplasia shows ground glass lesions.

What concept does this question test?

It tests MSK imaging: Gaucher disease in Radiology. Enzyme replacement is the treatment.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 MSK imaging: Gaucher disease?

Learn signs with the image, and the disease they point to. Then use the flashcards and the other Radiology 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.