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Table of Contents  
LETTER TO EDITOR
Year : 2011  |  Volume : 5  |  Issue : 1  |  Page : 111-113  

Anesthetic challenges and difficulties in the management of Treacher Collins syndrome


1 Department of Anaesthesiology and Intensive Care, Gian Sagar Medical College and Hospital, Ram Nagar, Banur, Punjab, India
2 Department of Ophthalmology, Gian Sagar Medical College and Hospital, Ram Nagar, Banur, Punjab, India

Date of Web Publication23-Aug-2011

Correspondence Address:
Sukhminder Jit Singh Bajwa
House No-27-A, Ratan Nagar, Tripuri, Patiala, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0259-1162.84178

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How to cite this article:
Bajwa SJ, Bajwa SK, Singh A, Khan B, Parmar S S, Singh G, Kaur J. Anesthetic challenges and difficulties in the management of Treacher Collins syndrome. Anesth Essays Res 2011;5:111-3

How to cite this URL:
Bajwa SJ, Bajwa SK, Singh A, Khan B, Parmar S S, Singh G, Kaur J. Anesthetic challenges and difficulties in the management of Treacher Collins syndrome. Anesth Essays Res [serial online] 2011 [cited 2020 Apr 6];5:111-3. Available from: http://www.aeronline.org/text.asp?2011/5/1/111/84178

Sir,

Anesthesiologists are encountering an increasing number of pediatric patients with numerous rare diseases and syndromes who present for various operative interventions. One such rare congenital disorder is  Treacher Collins syndrome More Details (TCS) [1] which we successfully managed from anesthesia perspective during the operative procedure for coloboma of upper eyelid. A 5-year-old boy, weighing 19 kg was brought to the Ophthalmology outpatient department by his parents for treatment of the decreased vision and exposure keratitis in the left eye resulting in the formation of corneal opacity due to the presence of coloboma of upper eyelid. He was diagnosed as a case of TCS by the pediatrician as typical dysmorphic features of TCS were present which included hypoplasia of the facial bones, antimongloid appearance, down sloping palpebral fissures, coloboma of the left upper eyelid, macroglossia, mild retrognathia and microtia with hearing loss [Figure 1] and [Figure 2]. Preoperative anesthetic evaluation revealed airway of MP class III with just 2-and-a-half finger mouth opening. All investigations and systemic examination was found to be normal. The patient was posted for V-Y plasty of the left upper eyelid under general anesthesia. Preoperatively, airway and emergency resuscitation trolley was made ready along with the equipment for difficult airway management and an ENT surgeon got scrubbed during the induction period. Induction of anesthesia was achieved with sevoflurane in 6 L of oxygen administered through number 2 face mask attached to Jackson Rees circuit and 40 mg of ketamine and 30 mg of succinylcholine was injected intravenously. Thereafter, laryngoscopy was carried out with straight blade number 2 and the interior view of the laryngeal structure can best be described as Cormack Lehane grade III. We were able to intubate the child in the first attempt with a little difficulty. Anesthesia was maintained with sevoflurane and nitrous oxide in oxygen in a ratio of 60:40 and vecuronium was used for maintenance of neuromuscular blockade. The whole surgical procedure lasted for 20 minutes and the neuromuscular blockade was reversed with injection neostigmine and glycopyrrolate. Extubation was carried out when the child got awake and thereafter shifted to recovery ward for further postoperative monitoring.
Figure 1: Frontal view of the face showing micrognathia and other typical facies of Treacher Collins syndrome

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Figure 2: Lateral view of the face showing poorly developed ear resulting in microtia

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TCS is a rare syndrome which is inherited congenitally by the transmission of an autosomal dominant gene with an approximate incidence of 1 in 10000 live births. [2] TCS is caused by alteration in the first and second branchial arches during embryological development which gets manifested later as abnormal craniofacial deformities. There is an abnormal expression of gene TCOF1 resulting in the incorrect coding for protein treacle which is essential for the survival of cephalic neural crest cells. [3] The mandibular, maxillary and zygomatic hypoplasia constitutes the disease entity 'mandibular dysostasis' which is a characteristic feature of TCS. [4] The severity of the disease is assessed by Kabon's classification which is based on evaluation of temporomandibular joint and mandibular deformities and a severe form of TCS is referred to as Franceschetti syndrome. [5],[6],[7] The therapeutic intervention in this form of severe disease includes early tracheostomy and feeding gastrostomy. [8],[9] This case can be best described as moderate with regards to severity of disease. The degree of difficulty in airway management increases considerably by the presence of severe craniofacial deformities and abnormal bony configuration. [10],[11],[12] Although, there is a great controversy regarding the increase or decrease in degree of difficulty in airway management with growing age, [13],[14] but the situation was manageable in our case possibly due to younger age. Awake fibreoptic and blind nasal intubation was not possible in this patient because of smaller age. The preference of Miller blade was based on the fact that a straight blade allows a better visualization of the glottis in pediatric population due to reduction in the amount of the compressed tissue which is commonly faced problem with the curved Macintosh blade which fails to negotiate the tongue in macroglossia as the soft tissues of tongue assumes a pear drop shape. [15] This process puts the compression on the epiglottis, pushing it against the posterior pharyngeal wall, thus obstructing the adequate view of the glottis. [16] The straight blade causes minimal compression on the soft tissues of the large sized tongue thus allowing an equal distribution of tongue tissue on either side of the blade and making a clear central path for proper visualization of the glottis and intubation. The situation in such cases eases because of lowering of proximal end of line of sight. [17],[18] In a difficult situation, as was anticipated in the present case, LMA can be used to enable ventilation if initial attempts fail during intubation but the incidence of aspiration is an always associated hazard. [19] Although several reports have been published about the use of intubating LMA being used in such difficult situations but we were prepared with fibreoptic bronchoscope as it is always a better option than the available gadgets for managing difficult airway. [19],[20],[21]

Anticipation of difficult airway and intubation is the focal point in the management and such cases should be operated in a tertiary care centers which are well-equipped with all gadgets for pediatric emergencies along with the presence of a neonatal intensive care unit.

 
   References Top

1.el Campo A, Martinez Elizondo M, Arnaud E. Treacher Collins syndrome. Plast Reconstr Surg 1994;21:613-23.  Back to cited text no. 1
    
2.Tessier P. Anatomical classification of facial, cranio-facial and latero-facial clefts. J Maxillofac Surg 1976;4:69-75.  Back to cited text no. 2
    
3.Splendor A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: Confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet 2002;39:493-5.  Back to cited text no. 3
    
4.Vallino-Napoli L. A profile of the feature speech in patients with mandibulofacial dysostosis. Cleft Palate Craniofac J 2003;6:623-34.  Back to cited text no. 4
    
5.Munro IR, Kay PP, Randall P, Ruff GL. , Siebert JW. Craniofacial syndromes. In: McCarthy JG, editor. Plastic Surgery, Vol. 4. Philadelphia: Saunders; 1984.  Back to cited text no. 5
    
6.Jackson IT. Reconstruction of the lower eyelid defect in TCS. Plast Reconstr Surg 1981;67:365-73.  Back to cited text no. 6
    
7.Shprintzen RJ, Croft C, Berkman MD. Pharyngeal hypoplasia in TCS. Arch Otolaryngol 1979;105:27.  Back to cited text no. 7
    
8.Posnick JC, Ruiz RL. Treacher Collins syndrome: Current evaluation, treatment and future directions. Cleft Palate Craniofacl J 2000;37:545-69.  Back to cited text no. 8
    
9.Shah FA, Ramakirshna S, Ingle V. Treacher Collins syndrome with acute airway obstruction. Int J Pediatr Othorhinolaryngol 2000;54:41-3.  Back to cited text no. 9
    
10.Harea J. Bullard laryngoscope proven useful in difficult intubations in children with Treacher Collins. Anesth Analg 2004;98:1815-6.  Back to cited text no. 10
    
11.Ferson DZ, Rosenblatt WH, Johansen MJ, Osborn I, Ovassapian A. Use of the intubating LMA-Fastrach™ in 254 patients with difficult-to-manage airways. Anesthesiology 2001;95:1175-81.  Back to cited text no. 11
    
12.Goldman AJ, Rosenblatt WH. Use of fibreoptic intubating LMA-CTrach™ in two patients with difficult airways. Anaesthesia 2006;61:601-3.  Back to cited text no. 12
    
13.Nargozian C. The airway in patients with craniofacial abnormalities. Pediatr Anesth 2004;14:53-9.  Back to cited text no. 13
    
14.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.  Back to cited text no. 14
    
15.Bellhouse CP, Dore C. Criteria for estimating likelihood of difficulty of endotracheal intubation with Macintosh laryngoscope. Anesth Intensive Care 1988;16:329-37.  Back to cited text no. 15
    
16.Horton WA, Fahy L, Carters P. Factor analysis in difficult tracheal intubation: Laryngoscopy induced airway obstruction. Br J Anesth 1990;65:801-5.  Back to cited text no. 16
    
17.Handler SD, Keon TP. Difficult laryngoscopy/intubation the child with mandibular hypoplasia. Ann Otol Rhinol Laryngol 1983;92:401-4.  Back to cited text no. 17
    
18.Diaz ZH, Guarisco JL, LeJeune FE Jr. A modified tubular pharyngolaryngoscope for difficult pediatric laryngoscopy. Anesthesiology 1990;73:357-8.  Back to cited text no. 18
    
19.Saini S, Hooda S, Nandini S, Sekhri C. Difficult airway management in a maxillofacial and cervical abnormality with intubating laryngeal mask airway. J Oral Maxillofac Surg 2004;62:510-3.  Back to cited text no. 19
    
20.Joo HS, Kapoor S, Rose DK, Naik VN. The intubating laryngeal mask airway after induction of general anesthesia versus awake fibreoptic intubation in patients with difficult airways. Anesth Analg 2001;92:1342-6.  Back to cited text no. 20
    
21.Thienthong S, Horatanarung D, Wongswadiwat M, Boonmak P, Chinachoti T, Simajareuk S. An experience with intubating laryngeal mask airway for difficult airway management: Report on 38 cases. J Med Assoc Thai 2004;87:1234-8.  Back to cited text no. 21
    


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  [Figure 1], [Figure 2]



 

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