Case Report: Pycnodysostosis Associated with Spondylolysis and Spondylolisthesis Mimicking Rickets

Abstract

Pycnodysostosis is a skeletal dysplasia, which is mainly characterized by short stature, increased bone density, separated cranial sutures with open fontanel, bone fragility, small hands and feets. We present a female patient, with pycnodysostosis has been misdiagnosed as rickets for a long period. Patient also had spondylolysis and spondylolisthesis at L5 vertebra. Patient was undergone the external fixation and patient were spent external fixation surgery due to spondylolysis and spondylolisthesis at L4-5 level and right femoral neck fracture. In conclusion, genetical skeletal dysplasia such as pycnodysostosis should be considered out of rickets if exists short stature, bone fragility and open fontanel. In patient with pycnodysostosis occurs bone fragility at an earlier age appears despite the increase in bone mineral density. Also, the development of spondylolysis and isthmic type of spondylolisthesis as well as bone fragility must be considered in the pycnodysostosis. Therefore, we emphasize to prevent high-impact trauma such as falling and crash in patients with pycnodysostosis. (Turkish Journal of Osteoporosis 2011;17:26-9)

Keywords

• Pycnodysostosis
• bone fragility
• spondylolysis
• spondylolisthesis