Osteopetrosis a Significant Bone Disease: A Case Study

Background: Osteopetrosis is a genetic condition that affects just a few people. illness characterised by osteosclerosis, Due to inadequate osteoclast resorption, there is destruction of the medullary canal, calcified cartilage, and hard bone. Patients with osteopetrosis are more likely to develop osteoarthritis. Only a few studies have documented a patient who underwent both a complete Arthroplasty of the hip and knee (TKA). In this article, a patient with osteopetrosis describes a case of left and right hip osteoarthritis.

Clinical Findings: Walking problems, Calcium deficiency, the optic nerve in the brain is under pressure. Hearing loss, as well as distress, can lead to neurological issues.

Diagnostic Evaluation: CBC Investigation, blood test, Hb-12.9%, Total RBC count-4.84million/cumm, RDW-13.2%, HCT-36.7%, Total WBC Count-26200 cu mm, Monocytes- 01%, Granulocytes- 30%, Lymphocytes- 65%, Total platelet count-3.5 Lacs/cu mm, ALT(SGPT)-17 U/L, AST (SGOT)-44 U/L.

Peripheral Smear: RBCs-Normocytic Normochromic Platelets-Adequate on smear, No Hemiparasite seen, WBCs-Neutrophilic leucocytosis.

Therapeutic Intervention: Calcium 1200mg, D3 8000IU, vitamin D supplements calcitriol 0.25mcg/ml, hormone replacement therapy, Bone marrow transplantation (BMT), Alendronate70mg, (Fosamax), Risedronate35mg OD (Actonel), Inj Boniva 3mg OD, Inj Zoledronic acid 4mg BD (Recast), various medications, and/or surgery.

Outcome: After therapy, the child's behaviour improves. Osteoporosis is a condition in which excessive bone resorption causes decreased bone mass and skeletal fragility, with the most serious clinical consequence being increased fracture risk.

Conclusion: The patient was hospitalised to AVBRH with a known case of Osteopetrosis illness and complained of difficulties awakening, discomfort, and neurological issues. After receiving appropriate therapy and surgery, his condition improved. According to this case study, in patients with osteopetrosis, total joint arthroplasty is an effective therapy for painful hip and knee osteoarthritis.