Novel de novo CLCN7 mutation in refractory osteopetrosis-related osteomyelitis: A case report and multidisciplinary therapeutic dilemmas.

BACKGROUND

Osteopetrosis, characterized by impaired osteoclast function and increased bone density, poses significant clinical challenges when complications like mandibular osteomyelitis arise. This report elucidates the clinicoradiographic progression and management of such a case in ADO-II, driven by a novel de novo CLCN7 c.2227C>T (p.R743W) mutation.

CASE PRESENTATION: A 57-year-old male presented with refractory mandibular osteomyelitis accompanied by facial swelling and trismus. Radiographs revealed mandibular osteolysis, "sandwich vertebrae," and "Erlenmeyer flask" deformities. He had anemia and thrombocytopenia. Sequencing analysis revealed a de novo CLCN7 c.2227C>T (p.R743W) mutation in the patient. Therapeutic measures involved partial splenic artery embolization, administration of intravenous cefuroxime and ornidazole combined with hyperbaric oxygen therapy and pleural drainage. The osteomyelitis persisted due to avascular necrosis in sclerotic bone, despite the adoption of multidisciplinary management.

CONCLUSIONS

This case highlights the aggressive phenotype associated with the CLCN7 c.2227C>T (p.R743W) mutation, the importance of early genetic testing and personalized therapeutic strategies.