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Table of Contents
CLINICAL CASE REPORT
Year : 2010  |  Volume : 12  |  Issue : 2  |  Page : 79-81

Congenital absence of the epiglottis


1 Senior resident, King Abdulaziz University Hospital, Riyadh, Saudi Arabia
2 Consultant, Security Forces Hospital, Riyadh, Saudi arabia

Date of Web Publication2-Jan-2020

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1319-8491.274638

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  Abstract 


The Congenital absence of the epiglottis is a very rare anomaly. Only 6 cases were reported worldwide. This is the first case reported in Saudi Arabia. We present a patient who has a complete absence of the epiglottis with hoarseness, chocking with thin fluid and failure to thrive. Both endoscopic and computed tomography (CT) documentation are provided. Management and review of literature are discussed.

Keywords: absence of epiglottis, chocking, hoarseness.


How to cite this article:
Al Dkhyyal AM, Alshehri HA, al-Asiri S. Congenital absence of the epiglottis. Saudi J Otorhinolaryngol Head Neck Surg 2010;12:79-81

How to cite this URL:
Al Dkhyyal AM, Alshehri HA, al-Asiri S. Congenital absence of the epiglottis. Saudi J Otorhinolaryngol Head Neck Surg [serial online] 2010 [cited 2022 Nov 30];12:79-81. Available from: https://www.sjohns.org/text.asp?2010/12/2/79/274638




  Introduction Top


The congenital absence of epiglottis is a rare anomaly. Failure of the epiglottis to develop results from an event occurring during the period of organogenesis, the period extending from conception through the eighth week of intrauterine life and involving both the third and fourth branchial arches. We present a patient who has a complete absence of the epiglottis with dysphonia, aspiration with thin fluid and failure to thrive. All investigations are provided and management discussed.


  Case report Top


Twenty month baby girl was referred to our clinic with a history of noisy breathing since birth ,hoarseness ,chocking with thin fluid, recurrent chest infection, and failure to thrive. The patient had microcephaly [Figure 1] and global developmental delay. There was no history of dysphagia.
Figure 1: Low set ear

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Perinatal history: she was a product of full term normal spontaneous vaginal delivery with a weight of 2.5 kg and admitted in the nursery for 2 weeks ,with no history of intubation or any other procedures. Past surgical history ,family and social history was unremarkable. On examination the baby looked well, vitally stable, afebrile, weighting 8kg, Hight: 75cm, on the 5th percentile, no stridor. Ears showed stenotic canal bilaterally .Nose: discharge. Throat :tonsil hypertrophy grade 2. The child was uncooperative for awake flexible laryngoscopy. All other examinations were normal. Investigation: CBC, electrolytes, PT, PTT, glucose, Liver function test ,thyroid function test ,urine analysis, and calcium were all normal.

She had direct laryngobronchoscopy [Figure 2] showing absence of epiglottis, normal glottis, subglottis, trachea and main bronchi. She had CT scan toconfirm the diagnosis [Figure 3].
Figure 2: laryngoscopy showing absence of epiglottis

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Figure 3: sagital CT shows absence of epiglottis.

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Chromosomal studies revealed a normal female karyotype.

ABR: was within normal limits. Modified barium swallow: showed supraglottic penetration with fluids. No aspiration was observed in all consistencies. The recommendation was for oral feeding with thick pureed diet and apply chin extension posture during swallowing. The dietitian instructed the mother as to how to increase the caloric intake and how to thicken the milk.

No other management was done and the patient followed up by the otolaryngology ,speech pathology and dietitian services.

Four months later there was no history of chocking or recurrent chest infection, The infant gained 1kg in weight to become 9kg in weight. She had hoarseness.


  Discussion Top


The three main functions of the larynx are respiration, protection and phonation. An embryological forerunner of the larynx was first seen in the primitive lung fish to protect the air sac from water. Phonation was a later product of evolution. Although the embryology of the larynx has been well established, controversy continues regarding the development of the epiglottis. It is thought that the epiglottis arises as a swelling on the hypobranchial eminence approximately during the 32nd day of intrauterine life. During this time, arytenoid swellings and aryepiglottic folds also become apparent. It is interesting to note that the hand plate also develops during this time period, thus explaining the associated hand anomalies. It is thought that interruption of growth at any time before these period results in the reported epiglottic anomalies, ranging from total absence, to hypoplasia, to bifid epiglottis [1]. Congenital absence or hypoplasia of the epiglottis is a very rare anomaly which usually occurs in association with congenital anomalies of other organ systems. Detailed descriptions in the literature are lacking and there has been no discussion of the effect on laryngeal function [2].

Jose et al report a case with total absence of the epiglottis and mild subglottic narrowing [1]. Several dysmorphic features were noted including cheek asymmetry, limited range of motion of the neck and micrognathia. Chromosomal karyotype was normal. Inspiratory stridor, with subcostal and suprasternal retractions were noted. For the next two years the patient had several hospitalizations for aspiration pneumonitis and failure to thrive. A polysomnogram obtained revealed severe obstructive sleep apnea. Echocardiography revealed right ventricular hypertrophy. Tracheotomy was performed and decannulation was done at age seven with mild obstructive sleep apnea in the supine position. The mechanism of obstruction was most likely glossop- tosis from the hypoplastic left mandible and loss of the vallecula. Repeat aspiration pneumonia was due to lack of epiglottic protection [1].

Bruce and Dalton reported a case with hypoplastic epiglottis presented with respiratory distress, cough and stridor developed 30 minuts after delivery. Clinical findings of low-slung, crumpled ears and micrognathia was seen. Endoscopy of the airway revealed a hypoplastic epiglottis and enlarged arytenoid cartilages with foreshortened aryepiglottic folds and normal glottis, subglottis, trachea and main bronchi. A cardiac echogram revealed an interrupted aortic arch. Cerebral ultrasound demonstrated holoprosencephaly of the lobar type, as well as an absent septum pellucidum, a choroid plexus cyst and a hypoplastic corpus callosum. Ophthalmological review revealed a right chororetinal coloboma and pallor of the left retina. Chromosome studies revealed a normal female karyotype. Aspiration remained a problem despite naso-gastric tube feeding. Nissen fundoplication and gastrostomy were performed and the aspiration problem was controlled [2]. Hong and yang reported a case with total absence of epiglottis .Patient was complaining of hoarseness of voice, frequent clearing of the throat and aspiration. On head and neck examination, both maxillae were hypoplastic and the laryngeal prominence was not palpable Laryngeal telescopy showed total absence of the epiglottis and false vocal folds. The aryepiglottic folds were underdeveloped. The arytenoids were slightly injected but normal in size. The true vocal folds were shortened and there was some salivary pooling . Chromosomal studies revealed a normal male karyotype. Total absence of the epiglottis and false vocal folds arc compatible with reasonably normal basic functions of the aerodigestive tract such as airway protection and swallowing although highly specialized processes, such as the quality of voice may be affected [3].

Carron reported two cases , first one was a 4-year-old boy with quiet voice since birth but was able to shout with agitation. Delayed speech, and history of chronic otitis media was obtained. Examination showed otitis media with effusion, severe myopia, low-set ears, micrognathia, a high arched palate, and micropenis. Laryngoscopy showed bifid epiglottis, with a submucous cleft, Grade 1 subglottic stenosis and membranous laryngeal webbing at the anterior subglottic region managed with microscissors and treated with topical mitomycin-C with post operatively voice improvement. Genetics evaluation was negative. Second one was a 10-week-old boy with noisy breathing since birth, as well as hoarse voice, and coughing with feeding. examination show small penis, bilateral cryptorchidism, and polydactyly. Laryngoscopy show complete clefting of the epiglottis and a type I laryngeal cleft , Grade 1 subglottic stenosis and small midline lingual cyst was also identified and marsupialized. No definitive syndrome could not be diagnosed by the geneticist [4].



 
  References Top

1.
Bonilla JA, Pizzuto MP, Brodsky LS. Aplasia of the epiglottis: Arare congenital anomaly, Ear, Nose Throat Journal; 1998;77:1.  Back to cited text no. 1
    
2.
Bruce Benjamin , Christopher Dalton . Hypoplasia of the epiglottis: case report and review, Internat Pediat Otorhinolaryngol. 1966;38:65-69.  Back to cited text no. 2
    
3.
Hong KH, Yang YS. Agenesis of the epiglottis and false vocal folds with maxillary hypoplasia in an adult. Laryngol Otol. 117:895-898  Back to cited text no. 3
    
4.
Carron JD. Bifid epiglottis revisited. Internat Pediat Otorhinolaryngolo. 2006;1:115-118.  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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