Congenital Absence of the Epiglottis in a 35 Years Old Patient

Abstract

Absent epiglottis is a rare reported anomaly in adults with unknown incidence. Most patients with absent epiglottis have presented with life-threatening symptoms of respiratory distress or severe aspiration in infancy or early childhood. We report a case of a 35 year old male patient with complete absence of epiglottis, presented with complaint of hoarseness of voice since birth.

Introduction

Congenital absence of Epiglottis in an adult is extremely rare anomaly. It occurs due to an event occurring in due period of organogenesis, period extends from conception to 8th week IUL and involves both 3rd and 4th branchial arches. We are presenting a case report of 35 years old male patient with complete absence of epiglottis, presented with complaint of hoarseness of voice.

Case Presentation

A 35 yrs old male patient presented with complaint of congenital hoarseness of voice which increases on shouting, speaking loudly and on taking cold fluids. The symptom were neglected since childhood due to its mild nature. Patient recently presented to outpatient department after multiple exacerbations of his symptoms after taking cold fluid or on exposure to cold environment. On Hopkins Rod Lens 70⁰ endoscopic examination epiglottis was found to be absent, arytenoids were fused and thickened mucosa was seen extending from the fused arytenoid to the posterior surface of thyroid lamina with a narrow laryngeal inlet (Fig. 1). Patient had no cheek asymmetry or micrognathia (Fig. 2). Xray neck was done in which epiglottis was absent (Fig. 3). Patient was managed conservatively with symptomatic medications.

Fig. 1.

Endoscopic image showing absent epiglottis, fused arytenoids and thickened mucosa extending from the fused arytenoid to the posterior surface of thyroid lamina with a narrow laryngeal inlet

Fig. 2.

Image of the patient showing no cheek asymmetry or micrognathia

Fig. 3.

X- Ray Neck lateral view showing absent epiglottis

Discussion

Respiration, protection and phonation are three main functions of the Larynx. In embryological phylogeny phonation was a later product of evolution. Embryology of larynx is well established but there is controversy regarding development of epiglottis. During 32nd day of intrauterine life, it is thought to arise as a swelling on hypobranchial eminence. Arytenoid swellings and aryepiglottic fold also become apparent during this period. Interruption of growth any time before this period result in epiglottic anomalies which may vary from total absence, hypoplasia to bifid epiglottis. Congenital total absence of epiglottis is a very rare anomaly. Jose A. Bonilla et al. reported a case with total absence of epiglottis with mild subglottic narrowing. Additional dysmorphic features were present such as cheek asymmetry, micrognathia and limited range of motion of neck. Pt’s chromosomal karyotyping was normal. Pt died after 2 years following repeated hospitalization [1]. Carron reported 2 cases, one 10 week old boy with complaint of noisy breathing since birth and another 4 year old boy with quiet voice by birth [2]. Hong and Yang reported a case with complete absence of epiglottis and patient having complaint of hoarseness of voice, aspiration and frequent clearing of throat [3].

Most of the patients presented with repeated episodes of aspiration pneumonitis, obstructive sleep apnea, coughing while swallowing and hoarseness of voice. Rizk HG et al. reported a case of 2 years 2 month old patient with complaint of repeated aspiration pneumonia [4]. Patients with congenitally absent epiglottis presenting in adulthood are extremely rare. Usually patient’s present in infancy or in childhood. Roh JL reported a case of congenital hypoplasia of epiglottis in a 42 years old male with complaint of hoarseness of voice and throat discomfort [5]. Yang Jae Kim et al. described a case of congenital aplasia of epiglottis in adult [6]. Association of Pierre Robbin syndrome with absent epiglottis, hemiagenesis of epiglottis, bifid epiglottis has been reported [7]. Exact management of agenesis of epiglottis is unclear. Patients were asymptomatic due to the compensation by tongue base, lingual tonsils, strong approximation of quadrangular membrane and true vocal cord which prevent from aspiration. Treatment is demanded in symptomatic cases. Temporary supraglottic closure with temporary supraglottic sutures to protect the airway from the digestive tract can be tried. A tracheostomy is added for airway management. Lives can be saved by supraglottic closure and thus newborns gets adequate time to develop pharyngo-esophageal coordination. Supraglottic closure is an effective way of preventing aspiration and temporary tracheostomy is very effective for airway management. Supraglottic closure facilitates easy feeding and helps the baby to grow till pharyngo-esophageal coordination develops.

Conclusion

Incidence of isolated agenesis of epiglottis is very rare. Most of them remain silent despite complete aplasia of epiglottis due to the body’s compensatory mechanism. A temporary supraglottic closure with tracheostomy may be required in symptomatic cases.

Declarations

Competing Interests

None.

Ethical Approval

Taken.

Patient Consent

Taken.