Treacher Collins syndrome was first described in 1900 by Dr Edward Treacher Collins, an English surgeon and ophthalmologist.1 Treacher Collins syndrome is a disorder of craniofacial maldevelopment with autosomal-dominant inheritance and variable penetrance. Incidence of Treacher Collins syndrome is approximately 1:50,000 live births, and approximately 60% of cases are spontaneous.2 The syndrome results from mutations in the TCOF1 gene found at the 5q32–33.1 loci which normally encodes the nucleolar phosphoprotein, treacle.3 Mutations in TCOF1 result in disordered neural crest cell proliferation and defective development of the bilateral first and second branchial arches.
Treacher Collins syndrome is characterized by bilateral, symmetric, downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.4 These abnormalities can cause significant feeding and respiratory difficulties secondary to oropharyngeal dyscoordination and upper airway obstruction. The clinical features and severity in each case of Treacher Collins syndrome vary widely. Intelligence is typically normal.
In 1963, the Glaswegian anesthetist Edward Ross5 published “Treacher Collins Syndrome, An Anaesthetic Hazard” in Anaesthesia. Therein, he described a child with Treacher Collins syndrome and hypoplasia of the maxillae, zygomas, and mandible who experienced near-fatal difficulties with ventilation, direct laryngoscopy, and endotracheal intubation in his care. Others also note that airway management challenges6 and intubation difficulties7 in patients with Treacher Collins syndrome are not uncommon, and can worsen with age.
CONSENT FOR PUBLICATION
A written Health Insurance Portability and Accountability Act authorization to use/disclose existing protected health information was obtained.
The patient is a 17-year-old, 51-kg young man with Treacher Collins syndrome who has required complex airway management throughout his life. As a neonate, he underwent tracheostomy for upper airway obstruction and was decannulated at age 3. He also required choanal atresia repair and mandibular distraction at age 5. Despite these interventions, he still suffered from severe obstructive sleep apnea requiring nightly bilevel positive airway pressure and still had limited temporomandibular joint mobility. His “open bite” was only 10 mm wide forcing him to adopt a limited diet, and at surgical presentation, he was unable to consume solid foods.
Bilateral temporomandibular joint replacement, bilateral coronoidectomy, bilateral Lefort-I osteotomy, sliding genioplasty, and placement of maxillomandibular fixation was scheduled jointly with pediatric plastic surgery and oromaxillofacial surgery. For surgical planning, 2- and 3-dimensional computed tomography imaging was obtained (Figure A, B) which revealed hypoplasia of the bilateral mandibular condyles and a resultant lack of articulation with the glenoid fossa. There was also atresia of the right naris and a narrowed oropharynx secondary to residual mandibular hypoplasia and tongue retropositioning, despite previous surgeries.
In light of prior difficulty with ventilation and intubation, an awake fiberoptic intubation was performed. In the preanesthesia care unit, the upper airway was anesthetized with 4 mL of nebulized 4% lidocaine over 10 minutes. Two milligrams of IV midazolam was given for anxiolysis and 0.2 mg of glycopyrrolate was administered as an antisialagogue. Once in the operating room, standard American Society of Anesthesiology monitors were placed, an additional 2 mg of midazolam was administered, and a bolus of 50 μg of dexmedetomidine was infused over 5 minutes. A nonrebreather mask was modified to provide passive oxygenation but allow access to the nose; 0.5 mL of 2% lidocaine was atomized to the left naris. The left naris was then progressively dilated with 24-, 26-, and 28-French nasopharyngeal airways coated in 5% lidocaine ointment. A 3.2 mm Olympus fiberoptic bronchoscope (BF-XP190, Olympus America, Center Valley, PA) loaded with a Shiley 6.5 mm nasal Ring-Adair-Elwyn tube (Covidien, Mansfield, MA) was introduced into the left naris. Once in the oropharynx, 2% lidocaine was sprayed directly onto the vocal cords. After 20 seconds, the fiberoptic bronchoscope was advanced through the glottis into the trachea and positioned above the carina. The nasotracheal tube was advanced and the cuff inflated. Tube placement was confirmed with the fiberoptic bronchoscope before connecting the nasotracheal tube to the ventilator. The patient was asked if he was ready to proceed. He gave a “thumbs up,” and general anesthesia was induced with propofol (150 mg). The nasotracheal tube was sutured to the nasal septum by the surgical team.
Surgery progressed uneventfully for 6 h until collapsing bellows, decreasing tidal volumes and an acute change in the end-tidal carbon dioxide (ETco2) waveform indicated a significant air leak. The surgeon stated, “I may have just cut through your tube.” An ETco2 tracing was present, indicating the laceration had likely not completely transected the nasotracheal tube. The surgical team was asked to stop the procedure and remove all instrumentation from the oropharynx. The fraction of inspired oxygen was immediately increased to 100% and the patient’s mouth closed manually to create a seal. The patient was able to be manually ventilated but a significant air leak was still present. This method of ventilation could not be maintained and allow surgery to continue, therefore intraoperative replacement of the nasotracheal tube was necessary. Replacement of the nasotracheal tube with an oral endotracheal tube (ETT) was not an option given this procedure, and the patient’s contralateral atretic naris precluded a side-by-side nasotracheal tube exchange. To safely replace the nasotracheal tube while maintaining adequate ventilation several advanced airway management techniques were combined.
To visualize the exchange, the 3.2 mm Olympus bronchoscope loaded with a 6.0 mm Sheridan ETT was inserted into the oropharynx next to a small Williams airway. The bronchoscope was then advanced alongside the damaged tube, past the glottis, and into the trachea providing direct visualization. Next, an 8-French Cook airway exchange catheter (Cook Medical, Bloomington, IN) was inserted into the damaged nasotracheal tube and intentionally advanced into the right mainstem bronchus under direct visualization (Figure C). A standard 15 mm connector was placed on the Cook airway exchange catheter and attached to the anesthesia circuit. Ventilation via the Cook airway exchange catheter was confirmed by auscultation over the right lung. Passive oxygenation via the Cook airway exchange catheter and limited manual ventilation was maintained throughout the exchange process. Next, the damaged nasotracheal tube was removed under direct fiberoptic bronchoscope visualization leaving the Cook airway exchange catheter in situ. Finally, a fresh 6.5 Shiley nasal Ring-Adair-Elwyn was introduced over the Cook airway exchange catheter and into the left naris, past the glottis, and into the trachea without difficulty. Positioning was confirmed by direct fiberoptic visualization and auscultation of bilateral breath sounds and normal ETco2 tracing. The bronchoscope was withdrawn, and the new nasotracheal tube was again sutured to the nasal septum by the surgical team. Examination of the original nasotracheal tube revealed a 3 mm partial laceration caused by the surgical saw in the side wall of the tube.
The remainder of the case progressed without issue and once concluded the patient was transported to the pediatric intensive care unit, still intubated, as had been planned. He was extubated on postoperative day 1 and discharged home on postoperative day 3.
Needing to urgently replace a definitive airway midsurgery is uncommon and generally unexpected. A damaged nasotracheal tube can result in inadequate oxygenation or ventilation, aspiration of blood or gastric contents into the lungs, damage to nearby structures, and even loss of the distal tube into the bronchial tree. While there are several reports of similar incidents,8,9 for this to occur in a patient with significant craniofacial anomalies and a documented difficult airway adds complexity to the situation. Often, nasotracheal tube replacement after damage can be achieved fiberoptically by aligning a new nasotracheal tube supraglottically with the damaged tube. The damaged tube can then be withdrawn under direct visualization and the new tube advanced over the fiberoptic bronchoscope beyond the glottis into the trachea. In the above-described patient, this technique was impossible due to an atretic right naris. Another approach could be to exchange the damaged nasotracheal tube for an oral ETT with the aid of a pediatric video laryngoscope.10 Unfortunately, this patient had a history of difficult intubation even with video laryngoscopy and the surgery could not have continued with an oral ETT in the surgical field. A third possibility is a blind tube exchange over a ventilating exchange catheter.11 Because it is a small, hollow aperture, the Cook airway exchange catheter can be placed through a damaged tube, and can remain in place to facilitate oxygenation (and some ventilation) while the damaged tube is removed and a new nasotracheal tube is placed directly over the Cook airway exchange catheter. The use of a Cook airway exchange catheter for nasotracheal tube exchange has been successfully described in adult patients12; however, experience in the pediatric setting is lacking,13 particularly in those patients with a known difficult airway.14 Moreover, a blind approach with a Cook airway exchange catheter could result in loss of Cook airway exchange catheter patency or position and could create increased potential airway injury13,14 in this bloody and edematous surgical field.
This case presented several challenges. The patient had complex orofacial anatomy at baseline, the shared-airway procedure had been progressing for 6 h, and an oral ETT was not an option. Therefore, a combination of techniques and preparation of several different rescue approaches was devised. To augment the use of the Cook airway exchange catheter, an orally placed fiberoptic bronchoscope was utilized. The presence of the bronchoscope allowed continuous visualization of the nasotracheal tubes being removed and advanced over the exchange catheter, and served as a backup for securing the airway should the Cook airway exchange catheter lose patency or become dislodged. This case report illustrates the successful use of simultaneous techniques to facilitate a safe nasal reintubation as well as allow for completion of an ongoing surgical procedure.
Name: Lynnie R. Correll, MD, PhD.
Contribution: This author helped care for the patient, create the figure, and write the manuscript.
Name: Chelsea Jin, MD.
Contribution: This author helped create the figure and write the manuscript.
Name: Meghan S. Park, MD.
Contribution: This author helped create the figure and write the manuscript.
Name: Audra M. Webber, MD.
Contribution: This author helped care for the patient, edit the figure, and write and edit the manuscript.
This manuscript was handled by: BobbieJean Sweitzer, MD, FACP.
1. Collins T. Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans Ophthalmol Soc U K. 1900;20:190.
2. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17:275–283.
3. Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009;41:1229–1232.
4. Plomp RG, van Lieshout MJ, Joosten KF, et al. Treacher Collins syndrome: a systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg. 2016;137:191–204.
5. Ross ED. Treacher Collins syndrome. An anaesthetic hazard. Anaesthesia. 1963;18:350–354.
6. de Beer D, Bingham R. The child with facial abnormalities. Curr Opin Anaesthesiol. 2011;24:282–288.
7. Inagawa G, Miwa T, Hiroki K. The change of difficult intubation with growth in a patient with Treacher Collins syndrome. Anesth Analg. 2004;99:1874.
8. Bidgoli SJ, Dumont L, Mattys M, Mardirosoff C, Damseaux P. A serious anaesthetic complication of a Lefort I osteotomy. Eur J Anaesthesiol. 1999;16:201–203.
9. Valentine DJ, Kaban LB. Unusual nasoendotracheal tube damage during Le Fort I osteotomy. Case report. Int J Oral Maxillofac Surg. 1992;21:333–334.
10. Galgon RE, Ketzler JT. The GlideScope for videolaryngoscopy-assisted nasotracheal-to-orotracheal tube exchange in the intensive care unit in a patient with a known difficult airway. J Clin Anesth. 2012;24:412–414.
11. Peskin RM, Sachs SA. Intraoperative management of a partially severed endotracheal tube during orthognathic surgery. Anesth Prog. 1986;33:247–251.
12. Hartmannsgruber MW, Rosenbaum SH. Safer endotracheal tube exchange technique. Anesthesiology. 1998;88:1683.
13. McLean S, Lanam CR, Benedict W, Kirkpatrick N, Kheterpal S, Ramachandran SK. Airway exchange failure and complications with the use of the Cook Airway Exchange Catheter®: a single center cohort study of 1177 patients. Anesth Analg. 2013;117:1325–1327.
14. Wise-Faberowski L, Nargozian C. Utility of airway exchange catheters in pediatric patients with a known difficult airway. Pediatr Crit Care Med. 2005;6:454–456.