Anesthetic challenges and difficulties in the management of Treacher Collins syndrome.

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 (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 [Figures 1 and 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

Figure 2

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

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.[5-7] The therapeutic intervention in this form of severe disease includes early tracheostomy and feeding gastrostomy.[89] 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.[10-12] Although, there is a great controversy regarding the increase or decrease in degree of difficulty in airway management with growing age,[1314] 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.[1718] 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.[19-21]

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.