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A 17-year-old female patient with achondroplasia complains of diminished endurance and progressive leg pain with ambulation. She reports pain relief with sitting and some relief with forward trunk flexion when standing. Which of following diagnostic tests should be considered?
Serum thyroid studies and inflammatory markers
The thyroid is not affected by achondroplasia, and the diminished endurance is more likely to be from spinal stenosis.
Radiographs of the hips and lower extremities
The case suggests spinal stenosis from the short pedicles associated with achondroplasia. Spinal imaging with magnetic resonance imaging is most appropriate.
Vascular studies to assess for aortic stenosis
Vascular compromise can cause leg pain; however, the description of relief with forward flexion is consistent with spinal stenosis.
Magnetic resonance imaging of the lumbar spine
Magnetic resonance imaging will demonstrate spinal stenosis, which can cause leg pain that is relieved by trunk flexion.
