Novel de novo CLCN7 mutation in refractory osteopetrosis-related osteomyelitis: A case report and multidisciplinary therapeutic dilemmas.
Yi-Wen Zhang, Qi-Yao Jin, Ming Xu et al.
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Case in brief
A 57-year-old man with ADO-II presented with refractory mandibular osteomyelitis, facial swelling, and trismus. Imaging showed mandibular osteolysis alongside “sandwich vertebrae” and “Erlenmeyer flask” deformities; laboratory findings included anemia and thrombocytopenia. Genetic sequencing identified a de novo CLCN7 c.2227C>T (p.R743W) mutation. Management included partial splenic artery embolization, intravenous cefuroxime and ornidazole, hyperbaric oxygen therapy, and pleural drainage. Despite multidisciplinary treatment, the osteomyelitis persisted, attributed to avascular necrosis in sclerotic bone.
What made this case unusual
The case links refractory mandibular osteomyelitis in ADO-II with a de novo CLCN7 c.2227C>T (p.R743W) mutation; the infection persisted in sclerotic bone with avascular necrosis despite multidisciplinary management.
Diagnostic / clinical pearl
In a patient with osteopetrosis and refractory mandibular osteomyelitis, characteristic skeletal imaging and genetic testing can help establish ADO-II and identify a CLCN7 mutation.
Why it matters
The report illustrates the management difficulty of osteomyelitis in sclerotic, avascular bone and supports consideration of early genetic testing and individualized multidisciplinary care.