Presentation
Fall when walking; with trauma to left thigh.
Patient Data
Age: 13 years
Gender: Male
From the case:
Pathological femoral fracture in osteopetrosis
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Displaced left midshaft femoral fracture.
Diffuse skeletal sclerosis in keeping with known history of osteopetrosis.
Case Discussion
This patient was known to suffer from autosomal dominant osteopetrosis.
Osteopetrosis, also called marble bone disease, is a rare hereditary metabolic bone disorder characterized by extremely dense bones throughout the skeleton, caused by diminished osteoclast function.
Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable.
The fractures in patients with osteopetrosis most commonly affect the long bones, caused generally by a minimal trauma.