Autosomal dominant osteopetrosis
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Autosomal dominant osteopetrosis is the less severe type of osteopetrosis and should be considered and compared with the other typesubtype: 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.
The autosomal dominant type is less severe than its autosomal recessive mate. Hence, it is also given the name "benign" or "adult" since patients survive into adulthood (something that is unlikely with the AR type).
Radiographic features
- bone within a bone appearance (case 1): one of the classical appearances of autosomal dominant osteopetrosis
- Erlenmeyer flask type deformity of the tubular bones
- Sandwich vertebrae: dense bands of sclerosis parallel to the endplates
- alternating radiolucent metaphyseal bands
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
Complications
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 normal life expectancy.
Differential diagnosis
General imaging differential considerations include:
-
multiple fracturesautosomal dominant osteopetrosis -
multiple cranial nerve compression: leading to deafness, blindnessheavy metal poisoning (e.g. lead) -
hepatospenomegaly: from extramedullary heamatopoesis due to bone red marrow replacementfluorosis - melorheostosis
- hypervitaminosis D
- pyknodysostosis
- renal osteodystrophy
- fibrous dysplasia of skull or face
-<p><a href="/articles/bone-within-a-bone-appearance-1"><strong>Autosomal dominant osteopetrosis</strong></a> is the less severe type of <a href="/articles/osteopetrosis">osteopetrosis</a> and should be considered and compared with the other type: <a href="/articles/autosomal-recessive-osteopetrosis-1">autosomal recessive osteopetrosis</a>.</p><p>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.</p><p>The autosomal dominant type is less severe than its autosomal recessive mate. Hence, it is also given the name "<strong>benign</strong>" or "<strong>adult</strong>" since patients survive into adulthood (something that is unlikely with the AR type).</p><h4>Radiographic features</h4><ul>- +<p><a href="/articles/bone-within-a-bone-appearance-1"><strong>Autosomal dominant osteopetrosis</strong></a> is the less severe type of <a href="/articles/osteopetrosis">osteopetrosis</a> and should be considered and compared with the other subtype: <a href="/articles/autosomal-recessive-osteopetrosis-1">autosomal recessive osteopetrosis</a>. The autosomal dominant (AD) type is less severe than its autosomal recessive (AR) mate. Hence, it is also given the name "<strong>benign</strong>" or "<strong>adult</strong>" since patients survive into adulthood (something that is unlikely with the AR type).</p><h4>Clinical presentation</h4><ul>
- +<li>multiple fractures</li>
- +<li>multiple cranial nerve compression: e.g. leading to deafness and/or blindness</li>
- +<li>hepatosplenomegaly: from extramedullary haematopoiesis due to bone red marrow replacement </li>
- +</ul><h4>Pathology</h4><p>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.</p><h4>Radiographic features</h4><ul>
-</ul><h5>Complications</h5><ul>-<li>multiple fractures</li>-<li>multiple cranial nerve compression: leading to deafness, blindness</li>-<li>hepatospenomegaly: from extramedullary heamatopoesis due to bone red marrow replacement </li>- +</ul><h4>Treatment and prognosis</h4><p>Treatment is with bone marrow transplant and resultant normalisation of bone production. Prognosis for the AD adult subtype is good with a normal life expectancy. </p><h4>Differential diagnosis </h4><p>General imaging differential considerations include:</p><ul>
- +<li><a title="Autosomal recessive osteopetrosis" href="/articles/autosomal-recessive-osteopetrosis-1">autosomal dominant osteopetrosis</a></li>
- +<li>heavy metal poisoning (e.g. <a title="Lead poisoning" href="/articles/lead-poisoning-1">lead</a>)</li>
- +<li><a title="Fluorosis" href="/articles/fluorosis">fluorosis</a></li>
- +<li><a href="/articles/melorheostosis-1">melorheostosis</a></li>
- +<li><a href="/articles/peroneus-brevis-1">hypervitaminosis D</a></li>
- +<li><a href="/articles/pyknodysostosis">pyknodysostosis</a></li>
- +<li><a title="Renal osteodystrophy" href="/articles/renal-osteodystrophy">renal osteodystrophy</a></li>
- +<li>
- +<a href="/articles/fibrous-dysplasia">fibrous dysplasia</a> of skull or face</li>