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
Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene., Chávez-Güitrón LE,Cerón-Torres T,Sobacchi C,Ochoa-Ruiz E,Villegas-Huesca S,, Boletin medico del Hospital Infantil de Mexico, 2018 [PubMed PMID: 30084437]
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]
An unusual presentation of patella and fifth metatarsal base fractures in a patient with osteopetrosis., Chawla A,Kwek EBK,, Journal of clinical orthopaedics and trauma, 2018 Jun [PubMed PMID: 29928105]