Recurrent ethmoid mucocele with cellulitis in a patient with Pfeiffer syndrome

Case Study

Abstract

Pfeiffer syndrome is one of six craniosynostosis syndromes and presents with craniosynostosis (the premature fusion of one or more calvarial sutures) and skeletal abnormalities. The aetiology of Pfeiffer syndrome is thought to be caused by mutations in the fibroblast growth factor genes FGFR1 and FGFR2. The anatomical complexity of craniosynostosis syndromes means that the long-term management of patients requires a multidisciplinary team approach. Patients with craniosynostosis syndromes are predisposed to sinus infections, including sinusitis, due to structural abnormalities and iatrogenic alterations in sinus anatomy following reconstruction. In this case report, we report a 14-year-old boy with Pfeiffer syndrome who presented with periorbital cellulitis secondary to recurrent ethmoid sinusitis. To the best of our knowledge, this is the first case of ethmoid sinusitis in a patient with Pfeiffer syndrome reported in the literature.