Osteoporosis pseudoglioma syndrome
Updates to Article Attributes
Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterized by severe osteoporosis and blindness. This disease is frequently mistaken for osteogenesis imperfecta.
Epidemiology
This disease is encountered in approximately 1 in 2 million births.
Pathology
This disorder is caused by a mutations in the gene encoding the low-density lipoprotein receptor-related protein 5 (LRP5). This gene is plays an important in bone remodelling.1
Radiographic features
Content pendingJuvenile onset of severe osteoporosis is a constant finding, which is variably associated with one or multiple fractures and bone deformities. Fractures predominate in the spine and lower extremity. Wormian bones are frequently encountered. This combination of findings usually leads to the incorrect diagnosis of osteogenesis imperfecta.2
-<p><strong>Osteoporosis pseudoglioma syndrome </strong>is a rare autosomal recessive disease that is characterized by severe osteoporosis and blindness. This disease is frequently mistaken for <a href="/articles/osteogenesis-imperfecta-1">osteogenesis imperfecta</a>. </p><h4>Epidemiology</h4><p>This disease is encountered in approximately 1 in 2 million births. </p><h4>Pathology</h4><p>This disorder is caused by a mutations in the gene encoding the low-density lipoprotein receptor-related protein 5 (LRP5). This gene is plays an important in bone remodelling.<sup>1</sup></p><h4>Radiographic features</h4><p><em>Content pending. </em></p>- +<p><strong>Osteoporosis pseudoglioma syndrome </strong>is a rare autosomal recessive disease that is characterized by severe osteoporosis and blindness. This disease is frequently mistaken for <a href="/articles/osteogenesis-imperfecta-1">osteogenesis imperfecta</a>. </p><h4>Epidemiology</h4><p>This disease is encountered in approximately 1 in 2 million births. </p><h4>Pathology</h4><p>This disorder is caused by a mutations in the gene encoding the low-density lipoprotein receptor-related protein 5 (LRP5). This gene is plays an important in bone remodelling.<sup>1</sup></p><h4>Radiographic features</h4><p>Juvenile onset of severe osteoporosis is a constant finding, which is variably associated with one or multiple fractures and bone deformities. Fractures predominate in the spine and lower extremity. Wormian bones are frequently encountered. This combination of findings usually leads to the incorrect diagnosis of <a href="/articles/osteogenesis-imperfecta-1">osteogenesis imperfecta</a>.<sup>2</sup></p>
References changed:
- 1. Marques-Pinheiro A, Levasseur R, Cormier C et-al. Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. Joint Bone Spine. 2010;77 (2): 151-3. <a href="http://dx.doi.org/10.1016/j.jbspin.2009.11.013">doi:10.1016/j.jbspin.2009.11.013</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/20096619">Pubmed citation</a><span class="auto"></span>
- 2. Kozlowski K, Zeman J, Pajerek J. European Radiology. 1995;5 (4): . <a href="http://dx.doi.org/10.1007/BF00184964">doi:10.1007/BF00184964</a><span class="auto"></span>
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