Osteopetrosis: Insights and Oversights—A Case Report and its Literature Review

Background: Osteopetrosis is a rare genetic disorder characterized by defective osteoclast function, leading to increased bone density and skeletal fragility. The condition manifests in various forms, ranging from mild adult-onset to severe infantile types, often associated with hematologic, neurological, and growth complications. Introduction: Osteopetrosis patients will mostly suffer from pathologic fractures and progressive cranial nerve compression neuropathies. There are two sub classifications of autosomal dominant osteopetrosis, and these patients are often asymptomatic in adults. Objective: To present a comprehensive case report of osteopetrosis, emphasizing its clinical presentation, diagnostic challenges, and therapeutic considerations. Additionally, this study provides a narrative review of the different types of osteopetrosis, their clinical manifestations, and the multidisciplinary approaches involved in their management. We have focused to discuss case analysis, diagnostic challenges, therapeutic insights and role of stem cell transplant. Results and conclusion: Osteopetrosis is a complex genetic disorder requiring a multidisciplinary approach for effective management due to its wide-ranging complications. Pediatricians play a crucial role in early diagnosis and monitoring growth-related issues, while hematologists manage bone marrow failure and related hematologic abnormalities. Three types of osteopetrosis with different severity degrees of skeletal disorders and pathological severity are explained. BMT markedly improves cases of infantile osteopetrosis. It cures bone marrow failure and metabolic abnormalities in patients. Multidisciplinary team approach is needed for treatment and management of complications.