Osteopetrosis

Case contributed by Michael Lousick
Diagnosis certain

Presentation

Cough and history of acute pulmonary edema.

Patient Data

Age: 60 years
Gender: Female
x-ray

Considerable cardiomegaly.

Lungs and pleural spaces clear with no features of APO.

Extensive sclerosis affecting all visible bones.

Case Discussion

The sandwich vertebral body sign is apparent. This can be mistaken for the rugger-jersey sign (associated with hyperparathyroidism) which appears less dense and less defined, or the picture frame vertebral body which also involves the lateral margins.

This patient had a prior confirmed diagnosis of autosomal dominant type 2 osteopetrosis and also suffers from associated pancytopenia and splenomegaly.

 

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