Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome

Abstract

There is an association between tracheal cartilaginous sleeve and syndromic craniosynostosis. We present a case of tracheal cartilaginous sleeve diagnosed by ultrasound (US) in a patient with Pfeiffer syndrome. The patient developed respiratory failure and was suspected at bronchoscopy to have tracheal cartilaginous sleeve. US performed before tracheostomy placement demonstrated continuous hypoechoic cartilage along the anterior surface of the trachea, confirming the diagnosis. Our report shows that US can make a definitive diagnosis of tracheal cartilaginous sleeve and raises the possibility of using US to screen for the condition in patients with syndromic craniosynostosis without the need for anesthesia or ionizing radiation.