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Radiology · Musculoskeletal imaging: congenital pseudarthrosis of the tibia
Sample itemA 2-year-old with multiple café-au-lait macules and axillary freckling has anterolateral bowing of the tibia. Radiographs show narrowing and sclerosis of the mid-tibia with a fracture that has not united. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Congenital pseudarthrosis of the tibia
Anterolateral tibial bowing with a narrowed, sclerotic segment that fractures and fails to unite is congenital pseudarthrosis, and about half of cases are associated with neurofibromatosis type 1. Medial bowing with a beaked medial metaphysis is Blount disease instead.
Option by option
A. Congenital pseudarthrosis of the tibia (correct)
Correct. Anterolateral bowing, sclerosis and nonunion in a child with neurofibromatosis features indicates congenital pseudarthrosis.
B. Infantile tibia vara
Infantile tibia vara causes medial bowing with a depressed, beaked medial tibial metaphysis.
C. Rickets
Rickets causes metaphyseal widening and cupping with generalised poor mineralisation.
D. Fibrous dysplasia
Fibrous dysplasia gives an expansile ground-glass lesion rather than a narrowed sclerotic segment that fails to unite.
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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