Osteopetrosis is a rare congenital bone disorder characterized by osteoclast dysfunction and resulting in abnormally dense, sclerotic, and hypovascular bone. Patients are predisposed to hematologic abnormalities and chronic maxillofacial infections due to reduced marrow spaces and impaired immune penetration. Here, we describe a 40-year-old woman with known osteopetrosis and longstanding thrombocytopenia who presented with a 6-month history of gradually progressive left facial swelling, pain, and a draining infraorbital cutaneous fistula. Laboratory evaluation demonstrated leukocytosis, anemia, and severe thrombocytopenia. Computed tomography (CT) maxillofacial imaging demonstrated diffuse sclerosis of the craniofacial bones, with focal cortical disruption and soft-tissue inflammatory changes over the left maxilla. Biopsy revealed dense sclerotic trabeculae containing filamentous bacterial colonies consistent with Actinomyces species. The patient was treated with intravenous ceftriaxone and clindamycin, with multidisciplinary follow-up. The case underscores the importance of early suspicion, biopsy confirmation, and prolonged antimicrobial therapy when managing facial infections in patients with osteopetrosis.
Alfaisal et al. (Thu,) studied this question.