Association of Down Syndrome and Segmental Tracheal Stenosis with Ring Tracheal Cartilages: A Review of Nine Cases

Abstract

Four patients with Down syndrome and midtracheal stenosis, three with proven absence of the midtracheal pars membranacea ("hourglass trachea"), are reported. Five previously reported patients who had Down syndrome and tracheal stenosis of this type are summarized. Respiratory difficulty and stridor were the reported clinical features of all but one of the patients whose clinical story is available. That approximately half the patients with tracheal stenosis with hourglass trachea and midtracheal absence of the tracheal pars membranacea reported had Down syndrome suggests that the association of this pattern of congenital tracheal stenosis with Down syndrome is, although infrequent, significant.

Tracheobronchography in Children

“…Acquired lesions may result from intubation, burns, or other trauma. Congenital lesions may occur in isolation or in association with Down syndrome, craniosynostosis, or other craniofacial syndromes, or in association with cardiac, pulmonary, or great vessel anomalies, or in association with other abnormalities 13,15‐18 . Extrinsic vascular or mediastinal masses may cause tracheal narrowing by compression.…”

“…Circumferential characteristics include the presence or absence of the pars membranacea (PM) 1,15,16 . The absence of the PM defines complete tracheal rings, which cause airway obstruction because of their decreased diameter.…”

Respiratory problems in children with Down syndrome

“…21 Other infants may present with biphasic stridor, with inspiratory and expiratory components, which is suggestive of fixed proximal airway obstruction including subglottic stenosis, tracheomalacia or rarely complete tracheal rings. 18,[22][23][24] In a retrospective analysis of 40 cases of tracheal stenosis, Bravo et al noted that seven of the cases (17.5%) occurred in children with Down syndrome. 23 Subglottic stenosis is more common in Down syndrome because of the smaller laryngeal dimensions and the increased likelihood of previous endotracheal intubation.…”

An overview of respiratory problems in children with Down's syndrome

“…In patients with DS and congenital tracheal stenosis, the most common type appears to be segmental ‘hourglass’ stenosis 13. However, most cases of subglottic stenosis appear to be acquired postintubation; in one series of 17 patients with DS and subglottic stenosis, the stenosis was felt to be congenital in only four cases 10.…”