Osteopetrosis

Case contributed by Dr Dalia Ibrahim

Presentation

History withheld.

Patient Data

Age: 25-year-old
Gender: Female
Modality: 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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Case Information

rID: 47411
Case created: 15th Aug 2016
Last edited: 26th Feb 2017
Inclusion in quiz mode: Included

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