Clinico-radiological findings in osteopetrosis with mandibular osteomyelitis

Osteopetrosis, a hereditary bone disorder, leads to thickening of the bone cortex and narrowing of the medullary canal due to abnormal osteoclast function. Known as Albers-Schonberg disease, it has two forms: autosomal recessive and autosomal dominant. Chronic osteomyelitis, occurring in about 10% of cases, is a common complication characterized by facial swelling, sinus discharge, jaw pain, and fever, often stemming from dental infections. Diagnosis relies on clinical, lab, and radiological assessments. In this case, a 17-year-old male presented with facial swelling persisting for six months and intermittent fever. Contrast-enhanced CT scan revealed lytic-sclerotic lesions in the mandible and maxilla, along with cervical spine sclerosis. Diagnosis of jaw osteomyelitis in Osteopetrosis was confirmed. Management entails tailored antibiotic therapy, surgical debridement, and adjunctive therapies like hyperbaric oxygen. Due to its complexity, achieving a cure is challenging, with recurrent symptoms common. Multidisciplinary care involving orthopedic, infectious disease, and maxillofacial specialists is essential for comprehensive evaluation and management, aiming to improve patient outcomes and quality of life.