Recurrent ethmoid mucocele with cellulitis in a patient with Pfeiffer syndrome

Anjan Nibber,Calum Honeyman

doi:10.37707/jnds.v1i3.76

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.

Highlights

What is Pfeiffer syndrome? Pfeiffer syndrome is the rarest of the craniosynostosis syndromes, a group of syndromes with a genetic aetiology and which are characterised by premature calvarial suture fusion and skeletal abnormalities (Supplementary Material Table 1)
We report a 14-year-old boy with Pfeiffer syndrome who presented with periorbital cellulitis secondary to recurrent ethmoid sinusitis
4 Conclusions The true incidence of sinusitis and its complications in craniosynostosis syndromes is not known, but anatomical variation is considered to be a serious consideration for these patients

Summary

Background

What is Pfeiffer syndrome? Pfeiffer syndrome is the rarest of the craniosynostosis syndromes, a group of syndromes with a genetic aetiology and which are characterised by premature calvarial suture fusion and skeletal abnormalities (Supplementary Material Table 1). Three types of Pfeiffer syndrome are described, with variable degrees of severity.[1] Type 1, known as ‘classic’ Pfeiffer syndrome, is characterised by pansynostosis, maxillary hypoplasia and less severe proptosis It is usually inherited in an autosomal dominant manner, and most patients go on to live a normal life span. In a single-centre retrospective study, Fearon et al.[5] reported that the average number of operations of a Pfeiffer syndrome cohort (mean age 10) was 9.3 They reported that patients with Pfeiffer syndrome were most likely to undergo cranial vault reconstruction, maxillary advancement(s), neurosurgical operations, tracheostomy, and gastrotomy tube placement. The management of these patients is life long, as additional procedures throughout their lives may be required to correct craniofacial related complications

History PK is a 14-year-old male who presented to his local

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Discussion

Conclusions