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CASE REPORT
Year : 2020  |  Volume : 38  |  Issue : 2  |  Page : 204-207
 

McGovern nipple: An alternative for nose breathing in newborn with CHARGE syndrome, having bilateral choanal atresia


1 Department of Oral and Maxillofacial Surgery, MN DAV Dental College and Hospital, Solan, Himachal Pradesh, India
2 Department of Pediatric and Preventive Dentistry, Maharishi Markandeshwar College of Dental Sciences, Ambala, Haryana, India
3 Department of Oral and Maxillofacial Surgery, Sri Guru Ram Das Institute of Dental Sciences and Research , Amritsar, Punjab, India

Date of Submission10-Jan-2020
Date of Decision21-Feb-2020
Date of Acceptance18-Apr-2020
Date of Web Publication28-Jun-2020

Correspondence Address:
Dr. Mansi Jain
Maharishi Markandeshwar College of Dental Sciences, Mullana, Ambala, Haryana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JISPPD.JISPPD_320_19

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   Abstract 


CHARGE syndrome caused by the mutation of CHD7 genes is associated with many congenital anomalies. Individuals are diagnosed based on major and minor characteristic features and confirmed by genetic testing. Major criteria characterized by 4C's: Coloboma, Cranial nerve abnormalities, Choanal atresia, and typical CHARGE ear are seen. In this article, a case of a newborn suffering from CHARGE syndrome having stressful breathing is reported. A McGovern nipple was fabricated and secured in the oral cavity to maintain the oral airway till further surgical interventions were done.


Keywords: CHARGE syndrome, Choanal atresia, McGovern nipple


How to cite this article:
Kumar S, Jain M, Sogi S, Thukral A. McGovern nipple: An alternative for nose breathing in newborn with CHARGE syndrome, having bilateral choanal atresia. J Indian Soc Pedod Prev Dent 2020;38:204-7

How to cite this URL:
Kumar S, Jain M, Sogi S, Thukral A. McGovern nipple: An alternative for nose breathing in newborn with CHARGE syndrome, having bilateral choanal atresia. J Indian Soc Pedod Prev Dent [serial online] 2020 [cited 2020 Jul 13];38:204-7. Available from: http://www.jisppd.com/text.asp?2020/38/2/204/288227





   Introduction Top


CHARGE syndrome, also known as Hall–Hittner syndrome,[1] is a genetic disorder, incidence being 0.1–1.2/10,000 live births affecting males and females in equal numbers, and has been seen in all races.[2] Pagon et al. in 1981 first coined the acronym CHARGE association.[3] The CHARGE acronym comes from the first letter of some of the more common features seen in these children: (C) = coloboma (usually retinochoroidal) and cranial nerve defects, (H) = heart defects, especially tetralogy of Fallot, (A) = atresia of the choanae (blocked nasal breathing passages), (R) = retardation of growth and development, (G) = genital underdevelopment due to hypogonadotropic hypogonadism, (E) = ear abnormalities and sensorineural hearing loss. The diagnosis can be established by ruling out the major and minor diagnostic criteria outlined by Blake et al. in 1998[4] and modified by Verloes in 2005[5] and confirmed by genetic testing of CHD7 gene.

Various major and minor diagnostic features of charge syndrome are summarized in [Table 1] and [Table 2].[4],[5]
Table 1: CHARGE syndrome diagnostic criteria

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Table 2: Phenotypic features of CHARGE syndrome

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   Case Report Top


A child born in Nyangabgwe Referral Hospital, Francistown, Botswana, was having difficulty to breathe and got cyanosed within few seconds after birth. Immediately, he was shifted to ventilator as oxygen saturation was falling down. The child had broad prominent forehead, arched eyebrows, large eyes, broad prominent nasal bridge with single nostril, and bony obstruction leading to bilateral choanal atresia [Figure 1]. He had single testicle and extra digit in both hands and feet [Figure 2]. Radiological findings revealed malformed parietal and frontal skull bones, abnormal cardiothoracic ratio suggestive of cardiomegaly [Figure 3]. Based on all the radiological and clinical findings, the child was diagnosed with CHARGE syndrome.
Figure 1: CHARGE face showing broad prominent forehead and broad prominent nasal bridge with single blocked nostril

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Figure 2: Extra digit in the hand

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Figure 3: Chest and limb radiographs

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There was a risk of lung profusion due to a positive pressure oxygen supply from the ventilator, so it was an urgency to provide him with an oral airway so as to remove him from the ventilator. A common bottle long nipple was cut at the end creating a through passage for air to pass. The nipple was then positioned in the mouth and was tied over the infant's head so that the nipple stays in place [Figure 4]. Thus, a successful attempt was made to help the newborn breathe through the mouth and was removed from the ventilator. This technique was given by McGovern and was named after him as McGovern nipple. Since in our case, a long nipple was used, so we can rename it as modified McGovern nipple. A separate feeding tube was inserted from the side of the nipple to provide feeding. The child was then referred to a team of super specialists for further management.
Figure 4: McGovern nipple secured with ties

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   Discussion Top


CHARGE syndrome, a rare condition characterized by multiple congenital abnormalities, occurs due to mutations of the CDH7 (chromodomain helicase DNA-binding protein) gene. CHARGE syndrome can rarely be inherited. It occurs as a new autosomal-dominant condition, and 97% of cases result from new (de novo) mutations in the gene and occur in people with no such history in their family.[4],[6] There is usually a new mutation in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12.2 where the CHD7 gene is located which causes a small overlapping microdeletion at chromosome 8q12.[2] CHD7 provides instructions for making a protein that regulates gene activity. These mutations lead to the production of an abnormally short, nonfunctional CHD7 protein, which is thought to disrupt the regulation of gene expression during embryonic development causing the signs and symptoms of CHARGE syndrome.[7] The CHARGE association was first described in 1979 by Hall in 17 children with multiple congenital anomalies who were ascertained by choanal atresia.[8] In the same year, Hittner et al. reported this syndrome in ten children with ocular colobomas and multiple congenital anomalies;[9] hence, the syndrome is also called Hall–Hittner syndrome.[1] The term “syndrome” rather than “association” is used after the discovery that the majority of patients have a single etiological feature which is mutations within the CHD7 gene.[7]

Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. The most common neonatal emergencies in CHARGE syndrome involve cyanosis due to bilateral posterior choanal atresia and/or congenital heart defects. The primary foci of management should be airway stabilization and circulatory support.

Various major and minor diagnostic features of charge syndrome are summarized in [Table 1] and [Table 2].[4],[5]

Newborns are obligate nose breathers due to the elevated laryngeal position until mouth breathing is established with the descent of the larynx approximately 4–6 weeks of life. In case of bilateral choanal atresia, infants can have acute respiratory distress with intermittent cyanosis which is relieved by crying.[10] Feeding difficulty can be the initial alerting event in which the infants can present with progressive airway obstruction and choking during feeding because of their inability to breathe and feed simultaneously.[11] Choanal atresia is characterized by obliteration of the posterior nasal aperture leading to failure of the posterior nasal cavity to communicate with the nasopharynx. The deformity is made of 90% bony and 10% membranous atresia.[11] Infants with bilateral choanal atresia present as an airway emergency at birth. The goal of initial treatment for these patients is to maintain an adequate airway through the oral route for which oral airway or intubation is a viable option which helps to break the seal formed by the tongue against the palate and can be well tolerated for several weeks. The preferred oral airway is McGovern nipple or an oropharyngeal airway. An intraoral nipple is cut at its end to make a large opening and secured in the mouth with ties around the infant's occiput or around the ears.[10],[11] A small feeding tube can be placed through another hole in the nipple or alongside the nipple to provide feeding needs, whereas the nipple forces the baby to mouth breathe.

Very rarely, babies may be born without a nose, the condition known as congenital arhinia. This condition occurs in about 1 of 197 million births. In these newborns also who cannot breathe through their nose, the McGovern nipple is sometimes employed. In the case of congenital arhinia, a McGovern Nipple is an unreasonable long-term solution, though a tracheostomy may be needed to be performed to bypass the need for nose breathing.


   Conclusion Top


This article reported a newborn suffering from typical CHARGE syndrome in whom to maintain the oral airway, a modified McGovern Nipple was successfully placed so that the child can thrive without a ventilator till further surgical intervention can be made. As the child suffered from multiple congenital anomalies, a multidisciplinary approach was required for further management.

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.
Graham JM Jr. A recognizable syndrome within CHARGE association: Hall–Hittner syndrome. Am J Med Genet 2001;99:120-3.  Back to cited text no. 1
    
2.
Blakeand KD, Prasad C. Charge syndrome. Orphanet J Rare Dis 2006;1:34.  Back to cited text no. 2
    
3.
Pagon RA, Graham JM Jr., Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981;99:223-7.  Back to cited text no. 3
    
4.
Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73.  Back to cited text no. 4
    
5.
Verloes A. Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet A 2005;133A: 306-8.  Back to cited text no. 5
    
6.
Lalani SR, Hefner MA, Belmont JW, Davenport SL. CHARGE syndrome. In: Gene Reviews. Seattle : University of Washington; 2012.  Back to cited text no. 6
    
7.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: The clinical implications of an expanding phenotype. J Med Genet 2011;48:334-42.  Back to cited text no. 7
    
8.
Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr 1979;95:395-8.  Back to cited text no. 8
    
9.
Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation – A syndrome. J Pediatr Ophthalmol Strabismus 1979;16:122-8.  Back to cited text no. 9
    
10.
Assanasen P, Metheetrairut C. Choanal atresia. J Med Assoc Thai 2009;92:699-706.  Back to cited text no. 10
    
11.
Thiagarajan B. Choanal atresia. In: Rhinology. ENT Scholar; 2012.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1], [Table 2]



 

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