Congenital Tracheal Stenosis in a Patient WithDown’s Syndrome

Andrew Townsend, MD, and Ricky T. Mohon, MD, FAAP*

Key words: tracheal stenosis; Down’s syndrome; bronchography.

INTRODUCTION

CTS is a rare airway anomaly with high morbidity andmortality. An association between Down’s syndrome andCTS has been observed. Diagnostic evaluations andtherapeutic options available for CTS are evolving astechnologic advances are made. In this report we de-scribe the continued value and safety of contrast tracheo-bronchography in the evaluation of an infant withDown’s syndrome and CTS.

CASE REPORT

A 4-month-old male infant with Down’s syndromewas transferred to our facility after a 10 day hospitaliza-tion for persistent respiratory distress. He was born fol-lowing an uncomplicated full-term gestation. Shortly af-ter birth he was found to have a PDA and an atrial septaldefect with mild pulmonary hypertension. The patienthad no respiratory symptoms at birth. Prior to transfer,the patient failed to improve on ceftriaxone, nebulizedalbuterol, and supplemental nasal canula oxygen. Hischest radiograph showed bilateral upper lobe infiltratesand atelectasis (Fig. 1). RSV screening was negative ontwo occasions.

On examination, the patient had the typical stigmata ofDown’s syndrome. He had a severe cough with diffusewheezing and required supplemental oxygen to maintainoxygen saturations above 90%. Initial investigations in-cluded a normal upper gastrointestinal contrast study,esophageal pH probe, and sweat chloride test. Coarcta-tion of the aorta was diagnosed by echocardiography.

Fiberoptic bronchoscopy revealed severe airway nar-rowing inferior to the subglottic space (Fig. 2), but theextent of this stenosis could not be evaluated further bybronchoscopy. The patient was then intubated and stabi-lized with a 2.5 mm endotracheal tube, the largest endo-tracheal tube that could pass through the stenotic seg-ment. To determine the length and severity of the stenoticsegment, a contrast tracheobronchogram was performed(Fig. 3). The procedure was well tolerated by the patient.

DISCUSSION

Persistent respiratory distress despite adequate sup-portive care suggested a congenital airway anomaly inthis infant. Bronchoscopy revealed a complete trachealring just distal to the cricoid cartilage in the subglotticspace, but this procedure could not be used for furtherevaluation of the extent of the stenotic segment becauseof the degree of tracheal narrowing. A contrast tracheo-bronchogram demonstrated severe tracheal narrowingthat extended from the proximal to the distal trachea. Thetracheal diameter was similar to that of the mainstembronchi. The observed tracheal diameter compared withthe 2.5 mm endotracheal tube. The normal tracheal di-ameter should be approximately 6 mm at birth andshould increase to 7.2 mm by 6 months of age.1 Com-parison of this infant’s tracheal diameter with both themainstem bronchi and endotracheal tube confirmed thediagnosis of a long segment of congenital tracheal ste-nosis. Bronchography confirmed the extent of the stenot-ic element and also showed an incidental right trachealbronchus. Subsequent to undergoing a rib cartilage grafttracheoplasty, correction of his coarctation, and a PDAligation, this infant has done well.

Overall mortality of CTS has previously been reportedto be as high as 77%, but with improved surgical tech-niques a survival rate of 83% has been described.2,3 Di-agnosis of CTS involves a complete history and physicalexamination. Patients may present at birth if the stenosisis severe, but often they are asymptomatic for the firstfew months of age. Young infants presenting with stri-dor, dyspnea, or cyanosis should be evaluated for con-genital airway anomalies, including CTS.4

Diagnostic evaluation of CTS previously relied on

Department of Pediatrics, James H. Quillen College of Medicine, EastTennessee State University, Johnson City, Tennessee.

*Correspondence to: Dr. Ricky T. Mohon, Department of Pediatrics,Box 70578, James H. Quillen College of Medicine, East TennesseeState University, Johnson City, TN 37614.

Received 19 July 1996; accepted 18 January 1997.

Pediatric Pulmonology 23:460–463 (1997)

© 1997 Wiley-Liss, Inc.

plain radiography, fluoroscopy, and tracheobronchogra-phy. Improvements in CT, including thinner cuts (3 mm),spiral CT, and the development of three-dimensional im-aging, have led to its more frequent use in the evaluationof CTS.5 CT is not without its disadvantages. Sedation issometimes required to obtain an adequate study, and thatalone may worsen the already compromised respiratorystatus. Also, localized areas of tracheal stenosis may bemissed by CT.5 In the past, bronchography relied on oilypropyliodine or a suspension of 50% barium in isotonicsaline as contrast media, which led to concerns aboutairway irritation and inflammation.6 Recent reports haveshown tracheobronchograms with non-ionic contrast tobe safe and well tolerated.7,8 Tracheobronchograpy al-lows excellent visualization of the severity of stenosis, aswell as the length of the affected segment. Newer non-ionic contrast solutions, such as iopamidol, should lessenthe risk of secondary airway inflammation.

Bronchoscopy is indicated in patients suspected ofhaving tracheal stenosis. The area of stenosis can be vi-sualized, and complete tracheal rings can be identified, ifpresent. With complete tracheal rings the degree of ste-nosis can be so severe that the bronchoscope cannot bepassed into and beyond the stenotic area. Since complete

preoperative data are critical for planning the appropriatesurgical intervention, the length and severity of the ste-notic segment must be determined through either bron-chography, CT, or magnetic resonance imaging.

Surgical correction of CTS was first described byCantrell and Guild4 in 1964. In that report three morpho-logic variants were described, including generalized hy-poplasia, funnel-shape stenosis, and segmental ‘‘hour-glass’’ stenosis. An association of congenital ‘‘hour-glass’’ tracheal stenosis with Down’s syndrome has beendescribed in four patients by Wells and coworkers.9

Other studies of asymptomatic patients with Down’s syn-drome have shown that tracheal diameters are reducedcompared with controls.10–12 Associated anomalies in-cluding vascular rings and a hypoplastic aortic arch havebeen reported in up to 50% of patients with CTS. A righttracheal lobe bronchus and tracheoesophageal fistulahave also been described.2

The surgical procedure required to correct the stenoticregion depends on the length and degree of the stenosis.Balloon dilatation or excision with end-to-end anastamo-sis have been performed on short segment tracheal ste-nosis.13,14Long-segment tracheal stenosis with completetracheal rings has several surgical options. The mostcommonly performed procedures include a pericardialgraft or rib cartilage graft tracheoplasty.3,15 Both theseprocedures usually require cardiopulmonary bypass dur-ing surgery. Esophageal tracheoplasty has also been at-tempted,16 and recently slide tracheoplasty has been per-formed.17 These techniques have the potential benefits ofnot requiring cardiopulmonary bypass during surgery

Abbreviations

CT Computed tomographyCTS Congenital tracheal stenosisPDA Patent ductus arteriosusRSV Respiratory syncytial virus

Fig. 1. Chest radiograph showing bilateral upper lobe infiltratesand atelectasis.

Fig. 2. Bronchoscopic view of a complete tracheal ring just dis-tal to the subglottic space. The bronchoscopic pointer is lo-cated at the most anterior portion of the airway.

Congenital Tracheal Stenosis 461

and fewer postoperative bronchoscopies for removal ofgranulation tissue.

In conclusion,we have described the complimentaryuse of bronchoscopy and tracheobronchography in theevaluation of CTS. Diagnostic evaluations and surgicaloptions for CTS have evolved since the first correctiondescribed by Cantrell and Guild.4 Preoperative informa-tion that clearly demonstrates the length and severity ofthe stenotic segment is critical to planning the propersurgical intervention. Bronchoscopy, tracheobronchogra-phy, and CT should all be considered part of the diag-nostic investigation. Finally, CTS should be consideredin any infant with Down’s syndrome who presents withrespiratory symptoms.

REFERENCES

1. Armstrong WB, Netterville JL. Anatomy of the larynx, trachea,and bronchi. Otolaryngol Clin North Am. 1995; 28:685–699.

2. Loeff DS, Filler RM, Vinograd I, Ein SH, Williams WG, SmithCR, Bahoric A. Congenital tracheal stenosis: A review of 22patients from 1965 to 1987. J Pediatr Surg. 1988; 23:744–748.

3. Dunham ME, Backer CL, Holinger LD, Mavroudis C. Manage-

ment of severe congenital tracheal stenosis. Ann Otol RhinolLaryngol. 1994; 103:351–356.

4. Cantrell JR, Guild HG. Congenital stenosis of the trachea. Am JSurg. 1964; 108:297–305.

5. Manson D, Babyn P, Filler R, Holowka S. Three-dimensionalimaging of the pediatric trachea in congenital tracheal stenosis.Pediatr Radiol. 1994; 24:175–179.

6. Rimell FL, Stool SE. Diagnosis and management of pediatrictracheal stenosis. Otolaryngol Clin North Am. 1995; 28:809–827.

7. Betremieux P, Treguier C, Pladys P, Bourdiniere J, Lesclech G,Lefrancois C. Tracheobronchography and balloon dilatation inacquired neonatal tracheal stenosis. Arch Dis Child. 1995; 72:F3–F7.

8. Morcos SK, Anderson PB. Bronchography with Iotrolan 300. Ra-diology. 1995; 196:579–580.

9. Wells TR, Landing BH, Shamszadeh M, Thompson JW, BoveKE, Caron KH. Association of Down syndrome and segmentaltracheal stenosis with ring tracheal cartilages. Pediatr Pathol.1992; 12:673–682.

10. Aboussouan LS, O’Donovan PB, Moodie DS, Gragg LA, StollerJK. Hypoplastic trachea in Down’s syndrome. Am Rev RespirDis. 1993; 147:72–75.

11. Kobel M, Creighton RE, Steward DJ. Anaesthetic considerationsin Down’s syndrome: Experience with 100 patients and a reviewof the literature. Can Anaesth Soc J. 1982; 29:593–599.

12. Beilin B, Kadari A, Shapira Y, Shulman D, Davidson JT. Anaes-

Fig. 3. Frontal (A) and oblique (B) non-ionic contrast views of a tracheobronchogram showing long-segment tracheal stenosis. Aright tracheal bronchus is also demonstrated.

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thetic considerations in facial reconstruction for Down’s syn-drome. J R Soc Med. 1988; 81:23–26.

13. Hebra A, Powell DD, Smith CD. Balloon tracheoplasty in chil-dren: Results of a 15-year experience. J Pediatr Surg. 1991; 26:957–961.

14. Har-El G, Chaudry R, Shaha A, Lucente FE. Resection of trachealstenosis with end-to-end anastomosis. Ann Otol Rhinol Laryngol.1993; 102:670–674.

15. Jaquiss RDB, Lusk RP, Spray TL, Huddleston CB. Repair oflong-segment tracheal stenosis in infancy. J Thorac CardiovascSurg. 1995; 110:1504–1512.

16. Sasaki S, Hara F, Ohwa T, Eguchi T, Masaoka A. Esophagealtracheoplasty for congenital tracheal stenosis. J Pediatr Surg.1992; 27:645–649.

17. Grillo HC. Slide tracheoplasty for long-segment congenital tra-cheal stenosis. Ann Thorac Surg. 1994; 58:613–621.

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