Osteopetrosis

This is a young patient who presented with neck pain. Frontal and lateral radiographs of the cervical spine were obtained. These radiographs demonstrate no evidence of fracture or evidence of degenerative disease. However, the bones have a diffusely sclerotic appearance with thickening of the cortex. As part of this patients workup, a third radiograph of the pelvis and proximal femurs were obtained. The third radiograph demonstrates diffuse sclerosis of the pelvis and proximal femurs. While the differential diagnosis for diffusely sclerotic bones is broad, this patient had a metabolic bone disease known as osteopetrosis. In osteopetrosis, there is a malfunction of cells known as osteoclasts which are responsible for bone resorption. The bones become too dense. However, the bones also become at risk of fracture and dissolution. Other complications include anemia, infection, and multiple cranial nerve palsies secondary to increased osseous expansion of many of the neural foramina of the skull base.