A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History

A A Case Rep. 2015 Aug 1;5(3):36-9. doi: 10.1213/XAA.0000000000000175.

Abstract

Persistent airway obstruction symptoms in a 2½-year-old boy with Pfeiffer syndrome were attributed to facial abnormalities, central and obstructive sleep apnea, and tracheomalacia from a vascular ring. These findings delayed the diagnosis of a tracheal cartilaginous sleeve. Life expectancy in tracheal cartilaginous sleeve is improved by tracheostomy. Tracheal cartilaginous sleeve should be considered and investigated through airway endoscopy in children with fibroblast growth factor receptor-related craniosynostosis syndromes.

MeSH terms

  • Abnormalities, Multiple / surgery*
  • Acrocephalosyndactylia*
  • Airway Obstruction / etiology*
  • Airway Obstruction / surgery
  • Child, Preschool
  • Craniosynostoses / genetics
  • Heart Defects, Congenital*
  • Humans
  • Male
  • Receptors, Fibroblast Growth Factor / genetics
  • Trachea / abnormalities*
  • Tracheostomy

Substances

  • Receptors, Fibroblast Growth Factor

Supplementary concepts

  • Cardiocranial syndrome