Osteopetrosis

Case contributed by Mohammad Al-Tibi
Diagnosis almost certain

Presentation

Presented with chest pain and shortness of breath

Patient Data

Age: 30 years
Gender: Female

Chest x-ray

x-ray

There is widening of the costochondral junction and loss of the bony corticomedullary differentiation. Metaphyseal lucent bands are seen particularly at humeral heads. Multiple old posterior rib fractures.

The lung fields are clear. Nasogastric tube in situ.

Appendicular skeleton

x-ray

Again, diffuse bony sclerosis can be appreciated in the appendicular skeleton. There is bowing of the metatarsals consistent with osteopetrosis. Lucent lines are noted in the bases of the great toe phalanges.

Case Discussion

Young adult with longstanding classic appearance of osteopetrosis.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.