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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Adult Lab Normals
Pediatric Lab Normals
Ocular Manifestations of Albers-Schoenberg Disease (Osteopetrosis)., Ganesh S,Arora P,Tibrewal S,, Journal of pediatric ophthalmology and strabismus, 2018 Jul 1 [PubMed PMID: 30024019]
Osteopetrosis-Anesthetic Considerations for Total Knee Arthroplasty: A Case Report., Soberón JR Jr,Arzillo S,Myers SL,King JJ,, A&A practice, 2018 Jul 9 [PubMed PMID: 29994871]
Osteoporotic vertebral fracture prevalence varies widely., Gilchrist DN,Quayle J,Hamilton G,Te Momo L,, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2018 Jun 29 [PubMed PMID: 29957858]
An Exceptional Neurosurgical Presentation of a Patient with Osteopetrosis., Isler C,Kayhan A,Ugurlar D,Hanimoglu H,Ulu MO,Uzan M,Erdincler P,Ozlen F,, World neurosurgery, 2018 Jun 20 [PubMed PMID: 29935324]
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis., Whyte MP,Lim E,McAlister WH,Gottesman GS,Trinh L,Veis DJ,Bijanki VN,Boden MG,Nenninger A,Mumm S,Buchbinder D,, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2018 Jun 22 [PubMed PMID: 29933504]