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  In this article
Abstract
Introduction
Case Report
Discussion
Conclusion
Appendix
References
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  Table of Contents 
CASE REPORT
Year : 2021  |  Volume : 22  |  Issue : 2  |  Page : 176-179
 

An encounter with Nager's syndrome: A case report of pediatric airway challenge


1 Department of Anaesthesia, Bangalore Baptist Hospital, Bengaluru, Karnataka, India
2 Department of Pediatrics, Bangalore Baptist Hospital, Bengaluru, Karnataka, India
3 Department of Orthopaedics, Bangalore Baptist Hospital, Bengaluru, Karnataka, India

Date of Submission25-Jan-2021
Date of Decision14-Feb-2021
Date of Acceptance15-Feb-2021
Date of Web Publication29-Sep-2021

Correspondence Address:
Dr. Reena Ravindra Kadni
Department of Anaesthesia, Bangalore Baptist Hospital, Hebbal, Bengaluru, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/TheIAForum.TheIAForum_10_21

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  Abstract 


Nager acrofacial dysostosis is a rare genetic syndrome. It has a potential threat of obstructed airway from birth. Associated with severe micrognathia, it poses a difficult airway challenge to the anesthesiologist. Tracheostomy may be required for the survival of these patients. We report a case of a 2½-month-old infant with Nager's syndrome for lip reconstruction and club foot management.


Keywords: Difficult airway, Nager's syndrome, pediatric anesthesia, tracheostomy


How to cite this article:
Kadni RR, Zachariah K V, Maganthi M, Shyamsundar L G. An encounter with Nager's syndrome: A case report of pediatric airway challenge. Indian Anaesth Forum 2021;22:176-9

How to cite this URL:
Kadni RR, Zachariah K V, Maganthi M, Shyamsundar L G. An encounter with Nager's syndrome: A case report of pediatric airway challenge. Indian Anaesth Forum [serial online] 2021 [cited 2021 Dec 7];22:176-9. Available from: http://www.theiaforum.org/text.asp?2021/22/2/176/326967





  Introduction Top


Nager preaxial acrofacial dysostosis syndrome is a genetic disorder with severe oromandibular hypogenesis. The main clinical features consist of abnormal craniofacial, limb, and musculoskeletal morphogenesis. Oropharyngeal airway narrowing impacts in the form of life-threatening respiratory distress for the patient and difficult airway management for anesthesiologists.[1] Tracheostomy is emphasized for survival and with chances of unsuccessful intubation.[2] Around 100 case reports of Nager's syndrome (NS) have been reported in the literature. To the best of our knowledge, this is the first case report of NS in early infancy for anesthesia management being reported from India.


  Case Report Top


A 2½-month-old female baby presented with difficulty in feeding and noisy breathing. With a weight of 3 kg and height of 51 cm, the baby was below 3 percentiles according to the WHO growth standards. She had microcephaly, antimongoloid slant, everted lips with lip agenesis plastered to the alveolus. In addition, glossoptosis with tongue tie, macrosomia, bifid uvula, bulbous beak-shaped nose tip, severe micro and retrognathia, and low set dysplastic ears were present. Limb abnormalities were club feet, arachnodactyly with proximally placed thumb. Blood investigations and echocardiography were normal. Flexible nasal endoscopy revealed choanal atresia. The evaluation was done by a team of plastic surgeon, pediatric geneticist, pediatric orthopedician, otorhinolaryngologist (ENT), and anesthesiologist.

In view of characteristic phenotype, a clinical impression of NS was made. Unwillingness of the guardian hindered genetic confirmation.

Colorado pediatric airway score was 16 [Appendix 1] which predicted difficult airway and the role of awake intubation with the possible requirement of tracheostomy [Figure 1]. Difficult mask ventilation and nasal airway approach were anticipated in view of lip agenesis and choanal atresia. The baby was planned for release and reconstruction of lips, tongue tie release, and plaster casting for clubfoot.
Figure 1: Lateral profile displaying severe mandibular hypoplasia in Nager's syndrome

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The emergency need of tracheostomy was explained, and informed consent was taken from the guardians. Operation theater was arranged for difficult airway cart and emergency drugs: atropine, adrenaline 1:10,000 dilution and succinylcholine as per the weight of the baby. General anesthesia retaining spontaneous breathing with inhalation induction using sevoflurane was planned. A 24G (B Braun) intravenous (IV) cannula was secured in the left forearm and 0.45% dextrose normal saline was started at 12ml/hr. Premedication with IV glycopyrrolate 4 mcg/kg was administered. Inhalation induction was done with incremental sevoflurane concentration with 100% oxygen at 6 L/min with a Jackson Rees Circuit. IV fentanyl 1.5 mcg/kg was given slowly. The baby was kept on spontaneous breathing and IV propofol 1.5 mg/kg was given to facilitate the first attempt of intubation using a laryngoscope with Macintosh blade no. 1 with 3 size endotracheal tube (ETT) (Portex). On laryngoscopic examination, it was Cormack and Lahane Grade 4 and the intubation attempt was unsuccessful. There was a drop in oxygen saturation to 80% and bradycardia of 60 bpm, which was immediately treated with IV atropine 0.1 mg. Mask ventilation with 100% oxygen was done. The sevoflurane was discontinued and the return of spontaneous breathing improved oxygen saturation to 100%. The heart rate remained at 80 bpm and a second dose of atropine 0.1 mg improved it to 140 bpm. ENT specialist was alerted for the tracheostomy and decision for a second attempt of intubation was done. An interscapular support to raise the shoulder was placed. With incremental sevoflurane induction, laryngoscopy was done, and posterior aspect of arytenoids was seen with laryngeal pressure. A bougie (Intersurgicals) of 2 mm diameter was inserted and a 2.5 mm ETT was railroaded. The position was confirmed by auscultation and side stream capnography (Philips MP 40). The ETT was fixed at 9 cm at the angle of the mouth and ribbon gauze pack placed into the posterior oral cavity [Figure 2]. Atracurium 0.5 mg/kg and dexamethasone 0.15 mg/kg were given. The surgical duration was 3 h and was uneventful. A decision was made to transfer to pediatric intensive care unit on mechanical ventilation. After 24 h, uneventful extubation was done.
Figure 2: Post intubation with oral 2.5 endotracheal tube

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  Discussion Top


NS (OMIM# 154400) was first recognized by Nager and de Reynier in 1948. It is associated with heterozygous mutations in the SF3B4 gene and shares features with Miller's syndrome and Treacher Collins syndrome.[3]

The craniofacial abnormalities include zygomatic and maxillomandibular hypoplasia, micrognathia/retrognathia, downwards palpebral fissures, lower lid coloboma, flat nasal bridge, cleft lip and palate, low-set ears, hearing, speech, breathing, and feeding problems. Additional features of glossoptosis, tongue tie and lip eversion in our patient further contributed to the airway issues. The primary concern to the anesthetist is the perioperative airway management.[4]

The musculoskeletal abnormalities in the upper limbs include hypoplastic thumb, deformities of fingers, and radioulnar synostosis. The lower limb abnormalities include phocomelia, dislocated hips and clubfoot. Cardiovascular anomalies include Fallot's tetralogy or ventricular/atrial septal defect or patent ductus arteriosus. The characteristic facial features associated with limb malformations are diagnostic of NS.[1],[2],[5]

Nasal airway or oral airway are lifesaving during the performance of tracheostomy in NS.[6] Using nasal airway for oxygenation or anesthetizing through it stood meager chance in our case in view of narrow nares with choanal atresia.

Surgical tracheostomy is preferred over cricothyrotomy in children below 8 years.[7]

It was prepared as a part of a double set up airway intervention plan. Unavailability of a pediatric fiber-optic bronchoscope hindered the best option. Added difficult task in infants is the inability to cooperate making awake intubation impractical.[8]

Failure of management of the pediatric airway has life-threatening consequences of hypoxemia leading to bradycardia and to cardiac arrest in a matter of seconds. Repeated laryngoscopy attempts require variations of the technique, such a change of blade or positioning, to anticipate a better result.[9]

Four independent factors were recognized with the increased risk of complications: more than two tracheal intubation attempts; weight <10 kg; short thyromental distance; and three direct laryngoscopy attempts before an indirect technique.[10]


  Conclusion Top


Securing a difficult airway in a syndromic infant poses a great challenge. Expert hands at Pediatric tracheostomy are a must. Limitation with the availability of latest equipment such as pediatric video laryngoscope and fiber-optic bronchoscope in many health centers of developing countries continues to add concern in the management of the difficult pediatric airway.

Acknowledgment

We would like to thank Dr. Derek A. Mendonca, FRCS (Plastic Surgery) Consultant Plastic and Craniofacial Surgeon, Al Jalila Children's Hospital, Dubai, United Arab Emirates for his support during the management of this case.

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.


  Appendix Top


Appendix 1:

Colorado Pediatric Airway Score (COPUR)

C: Chin

  • From the side view, is the chin


    • Normal size 1
    • Small, moderately hypoplastic 2
    • Markedly recessive 3
    • Extremely hypoplastic 4


O: Opening

Interdental distance between the front teeth

  • More than 40 mm 1
  • 20–40 mm 2
  • 10–20 mm 3
  • Less than 10 mm 4


P: Previous intubations, OSA (obstructive sleep apnea)

  • Previous intubations without difficulty 1
  • No past intubations, no evidence of OSA 2
  • Previous difficult intubations, or symptoms of OSA 3
  • Difficult intubation—extreme or unsuccessful; emergency tracheotomy; unable to sleep supine 4


U: Uvula

  • Mouth open, tongue out, observe palate


    • Tip of uvula visible 1
    • Uvula partially visible 2
    • Uvula concealed; soft palate visible 3
    • Soft palate not visible at all 4


R: Range

  • Observe line from ear to orbit, estimate range of movement, looking up and down


    • More than 120° 1
    • 60–120° 2
    • 30–60° 3
    • Less than 30° 4


Modifiers: Add point for

  • Prominent front 'buck' teeth 1
  • Very large tongue, macroglossia 1
  • Extreme obesity 1
  • Mucopolysaccharidoses 2


Predictions Glottic

Points Intubation difficulty view

  • 5–7 Easy, normal intubations 1
  • 8–10 More difficult, laryngeal pressure may help 2
  • 12 Difficult intubation, fiber-optic less traumatic 3
  • 14 Difficult intubation, requires fiber-optic or other advanced methods 3
  • 16 Dangerous airway, consider awake intubation, advanced methods, potential tracheotomy (Patients with hypercarbia awake, severe obstruction) 4
  • 16+ Scores >16 are usually incompatible with life without an artificial airway




 
  References Top

1.
Bozatlıoğlu R, Münevveroğlu AP. Dental management of a patient with nager acrofacial dysostosis. Case Rep Dent.2015;2015:984732. doi: 10.1155/2015/984732. Epub 2015 Oct 7. PMID: 26527228; PMCID: PMC4617421.  Back to cited text no. 1
    
2.
Ethemoğlu F, Akça B, Yilbaş A, Üzümciği F, Canbay Özgür. Anesthetic management of a patient with Nager Syndrome. Acta Medica [Internet]. 2017;46. Available from: https://actamedica.org/index.php/actamedica/article/view/125. [Last cited on 2021 Mar 28].  Back to cited text no. 2
    
3.
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012;90:925-33.  Back to cited text no. 3
    
4.
Lin JL. Nager syndrome: A case report. Pediatr Neonatol 2012;53:147-50.  Back to cited text no. 4
    
5.
Groeper K, Johnson J, Braddock S, Tobias J. Anaesthetic implications of Nager syndrome. Pediatr Anaesth 2002;12:365-8.  Back to cited text no. 5
    
6.
Mcdonald MT, Gorski JL. Syndrome of the month: Nager acrofacial dysostosis. J Med Genet 1993;30:779-82.  Back to cited text no. 6
    
7.
Pawar DK, Doctor JR, Raveendra US, Ramesh S, Shetty SR, Divatia JV, et al. All India difficult airway association 2016 guidelines for the management of unanticipated difficult tracheal intubation in paediatrics. Indian J Anaesth 2016;60:906-14.  Back to cited text no. 7
[PUBMED]  [Full text]  
8.
Huang AS, Hajduk J, Rim C, Coffield S, Jagannathan N. Focused review on management of the difficult paediatric airway. Indian J Anaesth 2019;63:428-36.  Back to cited text no. 8
[PUBMED]  [Full text]  
9.
Daniel RT, Elizabeth DS. Pediatric airway: As difficult as they say? Rev Colomb Anestesiol 2018;46 Suppl. 1:52-7. [doi: 10.1097/CJ9.0000000000000046].  Back to cited text no. 9
    
10.
Fiadjoe JE, Nishisaki A, Jagannathan N, Hunyady AI, Greenberg RS, Reynolds PI, et al. Airway management complications in children with difficult tracheal intubation from the Pediatric Difficult Intubation (PeDI) registry: A prospective cohort analysis. Lancet Respir Med 2016;4:37-48.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2]



 

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