Autosomal dominant osteopetrosis

Changed by Aneta Kecler-Pietrzyk, 7 Apr 2017
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Updates to Article Attributes

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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).

Clinical presentation

  • multiple fractures
  • multiple cranial nerve compression: e.g. leading to deafness and/or blindness
  • hepatosplenomegaly: from extramedullary haematopoiesis due to bone red marrow replacement 

Pathology

In all osteopetrosis (whether AD or AR) there is a deficiency of osteoclast function and the result is that bone become dense. However, their altered internal architecture renders them weak. Therefore, patients have dense, sclerotic, fragile bones that fracture easily.

Radiographic features

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 the pelvis, increased risk of fracture

Treatment and prognosis

Treatment is with bone marrow transplant and resultant normalisation of bone production. Prognosis for the AD adult subtype is good with a reasonable life expectancy. 

Differential diagnosis 

General imaging differential considerations include:

  • -<a href="/articles/sandwich-vertebral-body">Sandwich vertebrae</a>: dense bands of sclerosis parallel to the endplates</li>
  • -<li><a href="/articles/zebra-stripe-sign">alternating radiolucent metaphyseal bands</a></li>
  • +<a href="/articles/sandwich-vertebral-body">Sandwich vertebrae</a>:  diffuse endplate sclerosis (peripheral bony sclerosis) and lucency of the centre of vertebral body</li>
  • +<li><a href="/articles/zebra-stripe-sign-bones">alternating radiolucent metaphyseal bands</a></li>
  • -<li><a title="hypervitaminosis D" href="/articles/hypervitaminosis-d">hypervitaminosis D</a></li>
  • +<li><a href="/articles/hypervitaminosis-d">hypervitaminosis D</a></li>

References changed:

  • 3. Kirkland JD, O'Brien WT. Osteopetrosis - Classic Imaging Findings in the Spine. (2015) Journal of clinical and diagnostic research : JCDR. 9 (8): TJ01-2. <a href="https://doi.org/10.7860/JCDR/2015/13334.6348">doi:10.7860/JCDR/2015/13334.6348</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/26436019">Pubmed</a> <span class="ref_v4"></span>

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