Osteopetrosis

Case contributed by Dr. Mohammad Al-Tibi

Presentation

Presented with chest pain and shortness of breath

Patient Data

Age: 30 years
Gender: Female
X-ray

Chest 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.

X-ray

Appendicular skeleton

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.

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Case information

rID: 78752
Published: 13th Jun 2020
Last edited: 13th Jun 2020
Inclusion in quiz mode: Included

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