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CASE REPORT
Year : 2009  |  Volume : 53  |  Issue : 4  |  Page : 496-500 Table of Contents     

Treacher-Collins Syndrome-A Challenge For Aaesthesiologists


1 Lecturer, House No.150113, `Shiv-Kuteer', Opp.Dena Bank Hsg. Soc. RegoBagh, Bambolim Complex, GOA 403202, India
2 Senior Resident, House No.150113, `Shiv-Kuteer', Opp.Dena Bank Hsg. Soc. RegoBagh, Bambolim Complex, GOA 403202, India

Date of Web Publication3-Mar-2010

Correspondence Address:
Leena Goel
House No.150113, `Shiv-Kuteer', Opp.Dena Bank Hsg. Soc. RegoBagh, Bambolim Complex, GOA 403202
India
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Source of Support: None, Conflict of Interest: None


PMID: 20640217

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Treacher-Collins syndrome is a rare congenital disease known to be associated with a difficult airway and presents some of the most hazardous and difficult challenges that anaesthetists may encounter within the entire practice of paediatric anesthesia. Successful anaesthetic management in a case of Treacher-Collins syndrome posted for cleft palate repair is presented in this report.

Keywords: Treacher-Collins syndrome, anaesthesia management


How to cite this article:
Goel L, Bennur SK, Jambhale S. Treacher-Collins Syndrome-A Challenge For Aaesthesiologists. Indian J Anaesth 2009;53:496-500

How to cite this URL:
Goel L, Bennur SK, Jambhale S. Treacher-Collins Syndrome-A Challenge For Aaesthesiologists. Indian J Anaesth [serial online] 2009 [cited 2019 Dec 9];53:496-500. Available from: http://www.ijaweb.org/text.asp?2009/53/4/496/60326


   Introduction Top


Treacher-Collins syndrome is also referred to as mandibulo-facial dysostosis is a highly complex dis­ease process. It is a congenital malformation of first and second bronchial arch, inherited as autosomal domi­nant trait. [1] The basic etiology is obscure. Ida Maan in 1943 mentioned that a disturbance in division and de­velopment of the mesodetmal bone tissue at the time of the fifth week offoetal life probably initiates this syn­drome. [2] lt is seen mostly among the poorer class of people.

The syndrome consists of congenital and familial deformities of the ear, eyes, maxillaand mandible. It is often associated with deafness due to mental atresia and malformation of the middle and inner ear. [3] Cleft lip and palate is present in up to 35% ofpatients, 34-40% have congenital palatopharyngeal incompetence, and are associated with other malformations of cardiovas­cular system. During the post operative period, pha­ryngeal and laryngeal edemamay develop. Even respi­ratory distress and sudden death has been reported. [4]


   Case Report Top


Aboy aged 5 years weighing 10kg, diagnosed as Treacher-Collins syndrome was presented for surgery for cleft palate repair. On evaluation the patient was found to have hypoplasia of facial bones (mandible, maxilla and cheek), down sloping palpebral fissures, coloboma of the lower eyelids, scanty lowereye lashes, microtia with hearing loss and micrognathia and retrognathia [Figure 1] and [Figure 2]. On airway assessment mouth opening was adequate and he had a Mallampatti class 4 airway. Neck movements were normal and spine was normal. Preoperative blood investigations showed Hb 12gm%, BUN, creatinine and electrolytes were normal. Chest X-ray and ECG were normal. In view of the difficult airway, relatives were informed that the technique might fail and tracheostomy consent was taken. A trolley for difficult airway was kept ready including LMA, retrograde intubation set, tracheostomy set and emergency cricothymidotomy set.

The patient was kept nil by mouth for six hours. Age was a limitation for awake intubation. We planned to go for smooth induction with a deeper plane of an­esthesia, avoiding hypoventilation and trauma to the airway. The patient was premeditated with atropine 0.2mgIV given to reduce the secretions. Sedatives were avoided as we anticipated a difficult airway. Dexam­ethasone 0.2mg.kg -1 IV was given. The patient was preoxygenated with 100% oxygen for five minutes. In­duction was done with IV propofol 2mg.kg -1 with in­cremental dose of sevoflurane. Initially mask ventila­tion seemed to be difficult due to a poor mask fit but improved to some extent after an omphrayngeal air­way insertion and gauze packing of the space between the mask and the cheek. But even with this we could not ventilate adequately. Then one assistant was asked to lift forward b oth the angles of the j aw, and only then thep atient could be ventilated. After induction, a gentle laryngoscopy showed a Class IV of glottis visualiza­tion as per CormackLehane classification.

Now taking the patient deeper, another assistant was asked to give a very good backward upward right­ward pressure (BURP). With this maneuver latyngos­copy showed a Cormack Lehane of glottis visualiza­tion as Class III. Now we were ableto intubate with a No. 4 uncuffed RAES endotrachealtube with the help of an appropriate sized stylet [Figure 3]. Later the tube was secured properly and the patient was handed over to the surgeons.

Further anaesthesia was maintained with NZO + OZ + sevoflurane and pancuronium with a supplemen­tation offentanyl 2µg.kgl IV for analgesia. The patient was monitored with pulse oximetty, EtCO2, NIBP, ECG, and precordial stethoscope throughout the sur­gical period which lasted for about two hours. The oxy­gen saturation, heart rate, BP, EtCO2 were monitored and maintained .Atthe end of the surgery ,the patient was reversed with neostigmine 0.05mg.kg -l and atro­pine 0.02mg.kg -1 . A smooth extubation was done once the child was fully awake. The patient was kept under observation and the postoperative period was unevent­ful. The patient was discharged after 7 days without any complication.


   Discussion Top


Patients with Treacher-Collins syndrome present a serious problem to anaesthetists in maintaining their airway, as upper airway obstruction and difficult tra­cheal intubation due to severe facial deformity make such a task difficult. Because of retrognathia, the air­way management of these patients is often challeng­ing [5],[6]

The cause for difficult intubation in such cases is due to relative macroglossia as a consequence of skel­etal abnormalities. This reduces the space available for manipulation and insertion of the endotracheal tube (En). The associated abnormalities may be limited mouth opening, reduced extension of the head on the neck, hypoplastic mandible and limited forward move­ment of hyoid. Often multiple mechanisms may be present in an individual case. [7],[8],[9],[10]

Treacher-Collins syndrome is caused by a defec­tive protein called treache. [11] More than half of the cases are thoughtto be due to new mutations. Because there is no family history of the disease, the condition may greatly vary in severity from generation to generation. Treacher Collies syndrome is a congenital deformity mainly of the face, and frequently of other parts of body. It is characterized by hypoplasia of the facial bones, especially the zygoma and mandible. Facial clefting causes the hypoplastic appearance, with possible de­formities of the ear, orbital, midface and lowerjaw re­gions. The clinical appearance is a result of zygoma (malar bone) failing to fuse with the maxilla, frontal, and temporal bones. [12]

The main signs of syndrome, [2]

1-Skeleton-(a) Skull-square forehead, flattening of the occipito-parietal region, lack ofangulations in the naso -frontal region and long occipito-fiontaldiameter, asym­metry of the skull caused by maldevelopment of the internal structure of the skull, such as petrosal bone.

b) Facial bones- Malays under developed with small ridges, lack of zygomatic arch, small antra and in some cases antradisproportionally large to the small malar bone, hypertrophic nasal septum, hypertrophic maxil­lary arch, frequently highly arched palate, may be as­sociated with cleft palate, malgrowingteeth, mandible hypoplastic, retruded with angle of jaw obtuse which frequently gives an open bite.

c) Others- May have in some cases, fused cervical vertebrae, abnormal costo-stemal structure, such as pectus excavates, long metacarpal and metatarsal bones.

2-Eye-Narrow interpalpebral spaces, most frequently running obliquely laterally, but occasionally medially. Notching on the outerportion of the lower eyelid mostly, and occasionally on the upper eyelid. The eyelashes are absent or growing irregularly in two or three rows. Absence of lachiymal glands, lateral deviation or pro­trusion of the eyeball, congenital ptosis.

3-Ears- Congenital absence of the external ear, ab­sence or occlusion of auditory meatus, deformity of the ear, with partial or comp lete deafness.

4-Mouth-Mostly there is macrostomia and in some cases microstomia, occasionally undeveloped tongue.

5-Atresia ofphaiyngeal ring.

6-Cheeks-Blind fistulae on the cheeks and rarely "tongue -shaped"growth ofhair on the cheeks on the lateral side of face.

7-Nose-In the majority of cases it is big with a very short columella, narrow mares and small lateral cartilages.

8-Associated deformities-Hypermobility of the pha­langes.

9-Mental development of children with this syndrome­Typically grows to become normal functioning adults of normal intelligence.

Our patient was a classical case of Treacher­Collins syndrome with almost allthe features with a significant airway distortion, because of which we had expected difficulty in maintaining airway as well as dif­ficult tracheal intubation.

Various techniques have been described in man­agement of such patients. These includes; direct laryn­goscopy, intubation with a flexible fiberoptic broncho­scope, light wand, laryngeal mask airway, retrograde intubationtechnique and tracheotomy can also be em­ployed. [13]

In awake, fiberoptic intubation for a recognized difficult airway in the pediatric population is challeng­ing, if not impossible secondary to the lackof coop­eration by the sedated child. Some alternatives to di­rect latyngoscopy include blind light wand technique, blind nasal intubation, and oral or nasal fiberoptic intu­bation; howeverthese techniques are often more diffi­cult in the pediatric population.

These difficulties might be avoided by first attempting intubation through a Laryngeal Mask ay (LMA) ratherthan direct laryngoscopy. However, the greatest challenge encountered whenintubatingthmughan LMA is howto removethe LMAwithout dislodgingthe Eli from thetrachea. This difficulty is unique to the pediat­ric anaesthesiologist, because the lengths of an age­appropriate pediatric Eli and LMA are similar, and the proximal end of the Eli tends to disappear in to the LMA once the Eli has passed through the vocal cords. This makes it difficult to safely remove the LMA without dislodgingthe Eli. One can circumvent this problem by extendingthe length of the pediatric ETT However; the paediatric patients with Treacher-Collins syndromehave the posteriorly protruded tongue which displaces the LMA, makes the glottis move consider­ably anterior and interfere with the attempts to enter the trachea with a bougie. Further downward displace­ment of the epiglottis can also impair the intubation tech­nique through LMA. The same is true for light wandguided intubation. [5],[14],[15]

Though the success rate with retro grade tracheal intubation is higher, it is more uncomfortable and atrau­matic experience to the awake patient. This is also an uneasy approach in pediatric patients as it needs a lot of understanding and cooperation from patient.

Comparatively our conventional approach with additional maneuvers seems abetter option, and though it is less predictable, it is without complications. In our hospital, as the above facilities were not available, we planned to go for smooth induction with adeeper plane ofanaesthesia with direct laiyngo scopy.

The three most important modifications we used in this technique were:

• Since we had expected difficult ventilation and intu­bation in this patient, we preferred to keep the patient spontaneously breathing with no muscle relaxation but in a deeper plane ofanaesthesiato give us ample time to attempt intubation.

• The forward lift of both the angles of the mandible by an assistant which to greater extent overcome the main cause of difficult ventilation in Treacher-Collins syn­drome, the retrognathia.

• And finally intubation was facilitated by avert' good backward upward and rightward pressure (BURP) by an assistant which makes Cormack Lehane of glottis visualization as Class III.

Anesthesiology is a field of challenges, especially when you encounter difficult to ventilate and difficult to intubate scenario. Hence every pediatric anaesthe­siologist should bewell prepared with the various tech­niques of the difficult airway algorithm before venturing into a case. This case of Treacher-Collins syndrome illustrates how a modified conventional approach can still be a very good and gold standard approach when other newer techniques are not available.



 
   References Top

1.Agrawal S, Asthana V Sharma W, Sharm a UC, Meher R. Alternative intubation technique in a case of Treacher­Collins syndrome. The Internet J Anesthesiology 2006;l1 :1-8.  Back to cited text no. 1      
2.Szlazak J. Treacher-Collins syndrome. Can MedAssoc Journal. I953;69:274-6.  Back to cited text no. 2      
3.Harrison MS. The Treacher Collins- Franceshetti syn­drome. JLaryngol Oto11957;71:597-604.  Back to cited text no. 3      
4.CotainaAA, Gil GS, Sanchez MV Trens MM, Montilla PB. Anesthesia in a patient with Treacher- Collins syn­drome. Rev EspAnestesiol Reanim 1990:37:95-7.  Back to cited text no. 4      
5.Ebata T, Nishiki S, Masuda A, Amaha K. Anaesthesia for Treacher Collins syndrome using a laryngeal mask airway. Can JAnaesth 1991; 38: 1043-5.  Back to cited text no. 5      
6.Bucx MJL, Grolman W, Kruisinga FR, Linedeboom JA, Van Kempen AA.The prolonged use of the laryngeal mask airway in a neonate with airway obstruction and Treacher- Collins syndrome. Paediatr Anaesth 2003;13: 530-3.  Back to cited text no. 6      
7.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. 7      
8.Charter P. Analysis of mathematical model for osseous factors in difficult intubation Anaesthesia 1984;39:1105-11.  Back to cited text no. 8      
9.Cormack RS, Lehane J. Difficult tracheal intubation in obstetrics. Anesthesia 1984; 39: 1105-11.  Back to cited text no. 9      
10.Mallampati SR,Gatt SP, Gugino Ld et al. Aclinical sign to predict difficult tracheal intubation- a prospective study CanJAnaesth 1 985;32:429-34.  Back to cited text no. 10      
11.Treacher Collins Syndrome.www.nih.gov/meclline plus/ ency/article/1695.  Back to cited text no. 11      
12.Sargent LA. Treacher Collins syndrome. Tennessee Craniofacial Center 1997;1:418-23.  Back to cited text no. 12      
13.Yuan-Chilin. Cervical spine disease andDown syndrome. In: Jalil Riazi, ed. Anaesthesiology clinics of North America, 1998;16:911-23.  Back to cited text no. 13      
14.Silk Jm, Hill HM, Calder I, Difficult intubation and thelaryngeal mask. Eur JAnaesthesiol 1991;4:47-51.  Back to cited text no. 14      
15.Beveridge IyIE. Laryngeal mask aneasthesia for repair of cleft palate. Anaesthesia 1989;44:656-7.  Back to cited text no. 15      


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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