Osteopetrosis (primary)

Case contributed by Maxime St-Amant
Diagnosis certain

Presentation

Bone pain

Patient Data

Age: 6 years
Gender: Male
x-ray

There is a diffuse accentuation of bones radio-opacity, without associated bone malformations, which is highly suggestive of osteopetrosis. Particularly in the lumbar spine, one could argue that there is a bone within bone appearance, albeit at an advanced stage.

ct

NECT shows diffuse calvarial bone thickening, in this patient known for osteopetrosis.

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