Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity

Abstract

Pfeiffer syndrome is a rare inherited craniofacial disorder. Upper airway obstruction is common among patients with Pfeiffer syndrome due to craniosynostosis. They may also present with lower respiratory tract obstruction due to a rare congenital airway malformation called tracheal cartilaginous sleeve (TCS). We report the case of a patient with Pfeiffer syndrome who presented with recurrent bronchopneumonia, discovered incidentally to have TCS via direct visualisation during tracheostomy. Relevant literature for this rare clinical condition are reviewed and discussed. Clinicians should be aware of TCS when encountering patients with craniosynostosis who present with recurrent lower respiratory tract infections. Careful and meticulous investigations should be performed to look for TCS, especially in patients with craniosynostosis.

New developments in the biology of fibroblast growth factors

“…Cartilaginous C‐shaped tracheal rings are important to maintain distension of the trachea. In patients with syndromic craniosynostosis syndromes (e.g., Pfeiffer, Crouzon, Apert, Beare‐Stevenson, and Saethre‐Chotzen) failure of segmentation of the C‐shaped tracheal rings can occur, increasing the risk of mortality in these patients (Mahmud et al, 2021; Pickrell et al, 2017; Seki et al, 2020; Wenger et al, 2017). Mice heterozygous or homozygous for activating mutations in Fgfr2 (p.C342Y) that cause Crouzon syndrome fail to segment tracheal cartilage resulting in a rigid tracheal sleeve.…”