A 13-year-old boy is found to have severe pain in his pelvic area for months. He has been to many physicians. An x-ray of his pelvis reveals a marble-like pelvis and a diagnosis of osteopetrosis is made. Where is the pathophysiologic defect?
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Osteopetrosis is a very rare disorder characterized by defective osteoclastic function. The disorder typically presents with marble-like bone.
Osteoclasts are responsible for bone resorption but in osteopetrosis, these cells do not function normally. The bone marrow fails to form in a normal fashion and is replaced by bone.
The disorder is characterized by fractures and bone pain.
The disorder is often confused with hypervitaminosis D, Paget disease, and metastatic prostate cancer.
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