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LETTERS TO EDITOR
Year : 2020  |  Volume : 14  |  Issue : 1  |  Page : 136-137

Agenesis of vocal cords in a child diagnosed with Cornelia de Lange syndrome: Time to relook or “time will tell”


1 Department of Anesthesia and Intensive Care, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
2 Department of Burns and Plastic Surgery, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

Correspondence Address:
Dr. Snigdha Bellapukonda
Department of Anesthesia and Intensive Care, All India Institute of Medical Sciences, Bhubaneswar - 751 019, Odisha
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/sja.SJA_576_19

Rights and Permissions
Date of Submission09-Sep-2019
Date of Acceptance12-Sep-2019
Date of Web Publication6-Jan-2020
 


How to cite this article:
Rao P B, Bellapukonda S, Rout SK, Singamsetty R. Agenesis of vocal cords in a child diagnosed with Cornelia de Lange syndrome: Time to relook or “time will tell”. Saudi J Anaesth 2020;14:136-7

How to cite this URL:
Rao P B, Bellapukonda S, Rout SK, Singamsetty R. Agenesis of vocal cords in a child diagnosed with Cornelia de Lange syndrome: Time to relook or “time will tell”. Saudi J Anaesth [serial online] 2020 [cited 2020 Jan 29];14:136-7. Available from: http://www.saudija.org/text.asp?2020/14/1/136/275122



Sir,

The vocal cords assist in phonation and help in preventing aspiration. These are the landmark for identification of tracheal opening while attempting intubation. Inability to visualize the vocal cords in a child with difficult airway can be a nightmare for the anesthesiologists. We discuss this interesting finding in a child with facial features of Cornelia de Lange sequence posted for cleft palate repair.

A 2-year-old child (weight-11 kg) presented with nasal regurgitation for 6 months. On presentation, the child had thick lashes encircling the eyes with ectropion and hence was not able to close the eyes when asleep. The ears were low-set with malformation of the auricles. The nasal bridge was flat with a smooth philtrum and widened intercanthal distance. The child was not able to vocalize but had a “high-pitched” cry. The other associated anomalies (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities—VACTERL) were ruled out by history, general physical examination, and investigations, that is, 2-dimensional-echocardiography (cardiac anomalies), ultrasound abdomen kidney-ureter-bladder (renal anomalies), and X-ray spine (vertebral anomalies). The child presented with global developmental delay. As the child also had a defect in the palate with nasal regurgitation, he was posted for reparative surgery.

As the child was cooperative and an optimal relationship could be established by the duty anesthesiologist, no sedative premedication was required during parental separation. Inside the theater, ketamine 1 mg/kg, glycopyrrolate 10 μg/kg, and fentanyl 2 μg/kg were administered intravenously. The operating room temperature was maintained (25°C–27°C) and the difficult airway cart was arranged a priori. Being a syndromic child, we chose to intubate the trachea with flexible bronchoscopy. There was a surprise waiting for the anesthesia team as there were no vocal cords visible anterior to the pharynx [Figure 1] and Supplementary Video 1]. With some difficulty, as we negotiated the scope into the lumen seen anteriorly, we were fortunate to visualize tracheal rings and carina farther ahead. A 4.0-mm uncuffed flexometallic endotracheal tube was inserted and airway was established. It was confirmed with visible chest rise and capnography. Anesthesia was conducted uneventfully with the completion of surgery.
Figure 1: Figure depicting (1) swollen and indistinct aryepiglottic folds and absence of true and false vocal cords (2) Sessile epiglottis adhered to the base of the tongue

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Sessile epiglottis adhered to the base of the tongue, swollen and indistinct aryepiglottic folds, and absence of true and false vocal cords create a nonreassuring laryngeal inlet for the anesthesiologist attempting to intubate the trachea in a syndromic child. Although the initial diagnosis was “Cornelia de Lange sequence,” which was based on the external facial abnormalities, the intraoperative airway findings suggested otherwise. The kind of confluence of airway abnormalities witnessed in this case was never reported in any syndrome.[1],[2],[3],[4] The karyotyping was found to be normal, with no mutations specific to Cornelia de Lange syndrome. As reported earlier, 30% of the patients with Cornelia de Lange syndrome might have normal karyotyping, the present case revolves around 2 possibilities: a new syndrome yet to be reported or a new variant of Cornelia de Lange sequence yet to reveal itself.[5]

Successful endotracheal intubation depends upon 2 basic factors namely identification and access to the laryngeal inlet. The identification of laryngeal inlet solely depends upon visualizing the vocal cords. In the absence of vocal cords (as in this case), the only way to identify the laryngeal inlet was to utilize other clues like its anterior location, noncollapsibility of the passage, tracheal rings, and tracheal bifurcation at the carina. Additionally, this case unveils a situation where either it has to be named as a new syndrome or as a new variant of already existing Cornelia de Lange sequence. This probably requires further debate on the subject matter to come to any conclusion.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Infosino A. Pediatric upper airway and congenital anomalies. Anesthesiol Clin North Am 2002;20:747-66.  Back to cited text no. 1
    
2.
Hockstein NG, McDonald-McGinn D, Zackai E, Bartlett S, Huff DS, Jacobs IN. Tracheal anomalies in Pfeiffer syndrome. Arch Otolaryngol Head Neck Surg 2004;130:1298-302.  Back to cited text no. 2
    
3.
Raj D, Luginbuehl I. Managing the difficult airway in the syndromic child. Contin Educ Anaesth Crit Care Pain 2014;15:7-13.  Back to cited text no. 3
    
4.
Corona-Rivera JR, Yanowsky-Reyes G, Arnaud-López L, Bobadilla-Morales L, Aguirre-Guillén RL, Jasso-Bernal JE, et al. Agenesis of the vocal cords in a female infant with Robin sequence. Clin Dysmorphol 2011;20:232-3.  Back to cited text no. 4
    
5.
Cornelia de Lange syndrome. Genetics Home Reference (GHR). Available from: http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome. Published 2015. [Last accessed on 2019 May 07].  Back to cited text no. 5
    


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