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Radiology · MSK imaging: osteopetrosis
Sample itemA child with anaemia and hepatosplenomegaly has radiographs showing uniformly dense bones with a 'bone within bone' appearance, and sclerotic bands at the vertebral endplates. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Osteopetrosis
Defective osteoclast function causes failure of bone resorption, so bones are dense but brittle. Rugger-jersey spine (sclerotic endplates with a lucent central part) and bone-in-bone appearance are classic, and marrow failure leads to anaemia and extramedullary haematopoiesis. Bone marrow transplantation can be curative in infantile cases.
Option by option
A. Osteopetrosis (correct)
Correct. Dense bones with a bone-within-bone appearance is osteopetrosis.
B. Rickets
Rickets shows widened, cupped metaphyses with poor mineralisation.
C. Scurvy
Scurvy shows a ground-glass osteopenia with a dense metaphyseal line.
D. Achondroplasia
Achondroplasia shows short limbs and a champagne glass pelvis.
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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