Presentation
Left thigh pain.
Patient Data
Diffuse sclerosis and loss of corticomedullary differentiation of the femur, proximal tibia, lumbosacral spine, and pelvis. There is a left femur shaft fracture with widening and flaring at the distal femur metaphysis ("Erlenmeyer flask deformity").
There is a right hip arthroplasty in place. There is metal hardware in proximal femur from a previous open reduction with internal fixation.
Sagittal and Coronal CT studies show vertebral bodies with a dense outer cortical rim and less dense central portion ("Sandwich vertebrae"). Diffuse sclerosis is seen in the spine.
Case Discussion
This case of a male with a known history of osteopetrosis features several characteristic changes of the disease. These include a diffuse increase in bone density, an "Erlenmeyer flask" deformity in the femur, and "Sandwich vertebrae"—which is also known as "bone-within-bone appearance" and is most frequently seen in the spine. The patient presented after suffering from a left femoral shaft fracture, highlighting the paradoxical brittleness and increased susceptibility to fractures commonly seen in osteopetrosis despite the apparent increase in bone density. The pathophysiology of the disease involves osteoclast dysfunction and subsequent failure of bone resorption.
Co-Author: Jatin Sharma, MD
Case courtesy of Sayf Al-Katib, MD. Beaumont Hospital, Royal Oak, Michigan.
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