Osteopetrosis

Case contributed by Dalia Ibrahim

Presentation

Background of osteopetrosis

Patient Data

Age: 25 years
Gender: Female
mri

Diffuse calvarial thickening and sclerosis which elicit significant low signal intensity at all pulse sequences.

Ventriculomegaly.

Diffuse sclerosis of the spine and facial bones. 

Case Discussion

The patient has a history of type I autosomal dominant osteopetrosis.

Autosomal dominant osteopetrosis is the less severe type of osteopetrosis and should be considered and compared with the other subtype: autosomal recessive osteopetrosis. The autosomal dominant (AD) type is less severe than its autosomal recessive (AR) mate. Hence, it is also given the name "benign" or "adult" since patients survive into adulthood (something that is unlikely with the AR type).

Classification

  • type I: pronounced osteosclerosis of cranial vault with clinical presentation as cranial nerve palsies
  • type II: end plate thickening of vertebrae (sandwich vertebra) and endobones ("bone-within-bone" appearance) in pelvis, increased risk of fracture

Differential diagnosis of diffuse calvarial thickening is listed in this article:

Calvarial thickening

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