Autosomal dominant osteopetrosis

Changed by Joshua Yap, 26 Sep 2022
Disclosures - updated 15 Jul 2022: Nothing to disclose

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 becomes dense. However, their altered internal architecture renders them weak. Therefore, patients have dense, sclerotic, fragile bones that fracture easily.

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

Radiographic features

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:

See also

  • -<li>hepatosplenomegaly: from extramedullary haematopoiesis due to bone red marrow replacement </li>
  • +<li>hepatosplenomegaly: from <a title="Extramedullary haematopoiesis" href="/articles/extramedullary-haematopoiesis">extramedullary haematopoiesis</a> due to bone red marrow replacement </li>
  • -<li><a title="Alternating radiolucent and radiodense metaphyseal lines" href="/articles/alternating-radiolucent-and-radiodense-metaphyseal-lines">alternating radiolucent metaphyseal bands</a></li>
  • +<li><a href="/articles/alternating-radiolucent-and-radiodense-metaphyseal-lines">alternating radiolucent metaphyseal bands</a></li>
  • -<li><p><a href="/articles/generalised-increased-bone-density-mnemonic">generalised increased bone density (mnemonic)</a></p></li>
  • -<li><p><a href="/articles/generalised-increased-bone-density-in-children">generalised increased bone density in children</a></p></li>
  • -<li><p><a href="/articles/generalised-increased-bone-density-in-adults">generalised increased bone density in adults</a></p></li>
  • +<li><a title="Generalised increased bone density (mnemonic)" href="/articles/diffuse-bony-sclerosis-mnemonic">generalised increased bone density (mnemonic)</a></li>
  • +<li><a href="/articles/generalised-increased-bone-density-in-children">generalised increased bone density in children</a></li>
  • +<li><a href="/articles/generalised-increased-bone-density-in-adults">generalised increased bone density in adults</a></li>
Images Changes:

Image 6 MRI (T2) ( update )

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