Volume 6, Issue 3 , Pages 137-139, September 2011
Absence of the epiglottis in an infant with Pierre Robin sequence
Article Outline
Abstract
Epiglottis anomaly associated with Pierre Robin sequence (PRS) is a rare occurrence. Most infants with PRS have presented life-threatening symptoms of respiratory distress and severe feeding problems that usually end with death. To the knowledge of the authors, this is the first reported case of epiglottis agenesis associated with PRS. The clinician must be aware of this unusual presentation in a PRS, and the presented case reveals the challenges in the treatment of the respiratory and feeding problems. This case is discussed with a review of the literature.
Keywords: Agenesis, Epiglottis, Pierre Robin
1. Introduction
Pierre Robin sequence (PRS) is a congenital disorder characterized by micro or retrognathia, breathing problems, feeding problems, cleft palate and glossoptosis [1], [2]. The incidence of this condition is uncertain but is estimated to occur in 1/8500–1/20,000 births [2]. Some arguments suggest an embryonic pathology in the development of caudal hind brain [1]. PRS can be found as an isolated anomaly or as a part of some syndromes such as Stickler, velo-cardio-facial, Treacher-Collins, hemifacial microsomia [3], [4]. Micrognathia is the primary anatomical deformity causing airway and feeding problems. Due to these problems morbidity and mortality rates increases [2].
To our knowledge, absence of epiglottis in an infant with PRS has not been reported previously. We report a first case of neonate with absence epiglottis in PRS.
2. Case report
The male infant was born at 37 weeks of gestation, weighing 2400
g. The mother's pregnancy was free of problems. There were no congenital anomalies in parents. The patient's dysmorphic features were noted including micrognathia, retrognathia, fish mouth, long philtrum, glossoptosis, bifid uvula, high arched palate, lower alveoler ridge, low set ears, clinodactyly of right hand fifth finger and left foot fifth finger, thin patent ductus arteriosus, small atrial septal defect (Fig. 1). The visual examination, lateral vertebrate X-rays, skull X-rays, abdominal and cranial ultrasonography was normal. In the early postpartum period minor respiratory disorders, intercostal retractions and feeding problems appeared. While he was feeding the oxygen saturation had a tendency to decrease so feeding tube was inserted. Chromosomes were normal that can rule out the possibility of other genetic links. Flexible fiberoptic laryngoscopy was performed and revealed total absence of epiglottis, rudimenter aryepiglottic folds and enlarged arytenoid cartilages (Fig. 2, Fig. 3, Fig. 4). The posterior commissure was edematous and excessive secretion was seen. The patient was advised to be followed up in prone position and hold with 45° during the feeding period. By these methods respiratory problems decreased and he put on weight. He was discharged with orogastric feeding tube. On the second month of life, he admitted to the department of pediatrics with respiratory distress and weight loss. He was diagnosed as aspiration pneumonia, hospitalized and intravenous antibiotic therapy was started. The symptoms regressed in a week and he was discharged. A month later he admitted with a diagnosis of aspiration pneumonia again. Although antibiotic therapy and high flow oxygen was given, clinical condition got worst, metabolic acidosis occurred and finally cardiac arrest developed. Tracheal intubation was performed because of his deteriorating respiratory status. He did not response to cardiopulmonary ressusitation and was accepted as exitus.
Fig. 1.
The dismorphic characteristics of the patient: micrognathia, retrognathia, fish mouth, long philtrum, low set ears, clinodactyly.
Fig. 2.
The flexible laryngoscopic vision of enlarged arytenoid cartilages and total absence of epiglottis.
Fig. 3.
The flexible laryngoscopic vision of arytenoid cartilages when it started closing.
Fig. 4.
The flexible laryngoscopic vision of arytenoid cartilages when totally closed.
3. Discussion
Epiglottis arises as a swelling on the hypobrachial eminence approximately during the 32nd day of the intrauterine life. Interruption of growth at any time before this may cause epiglottic anomalies [5]. These vary from total absence of epiglottis to epiglottic hypoplasias [5]. Hand plate also devolops during the same time period, and it can explain the associated hand anomalies [5]. Epiglottis is a structure that supports the airway. If this support fails aspiration occurs. The recurrent aspiration causes an inflammation in the upper respiratory tract and finally progressive airway and interstitial fibrosis [4]. Congenital hypoplasia or aplasia of epiglottis is a very rare anomaly. They are usually diagnosed in infancy and early childhood [7]. Epiglot hypoplasias can be found with abnormal skeletal maturation, polysyndactylism, polydactyly, extraskeletal anomalies, auricle deformities, renal anomalies, congenital hearth disease and mandibuler cleft [5]. Most of these patients end with death [6]. There are some exceptions that achieved to live up to the age 9 [5]. A 45-year-old man who had no epiglottis, absent aryepiglottic folds, rudimentary vestibuler folds, enlarged arytenoids, absent thyroid laminae and grossly thickened cricoid cartilage was also described [7].
In the PRS, the aspiration risk increases because of the infant's dismorphic characteristics. These are micrognathia, glossoptosis, small oropharynx, mandibular hypoplasias, cleft palate. Our case had epiglot agenesis, micrognathy, glossopitosis, mandibular hypoplasia and bifid uvula. PRS patients suffer from two main problems; airway obstruction and feeding difficulties. Glossoptosis and retroposition of the tongue into the oropharynx obstructs the upper airway especially while eating in these patients. This causes poor nutrition [3]. Nasogastric tubes may be useful in providing nutrition but they can be a risk factor for the aspiration pneumonia. The treatment methods of the feeding difficulties included upright feeding techniques, modification of the nipple for bottle feeding, use of nasogastric or orogastric feeding tube and placement of gastrostomy [3]. Bronchial aspiration is considered to be the most important complication in PRS children that can lead to death [4]. The management of respiratory problems is necessary in these patients. The treatment protocols include prone positioning, with or without nasopharyngeal tube, laryngeal mask, prolonged intubation, tongue-lip adhesion, mandibular distraction osteogenesis and finally tracheotomy [3]. Many authors accept that prone positioning must be the first choice for the minor cases, however there is no accepted treatment procedure for severe respiratory compromise [3]. If the airway obstruction could not be relieved by conservative management, surgical intervention could be recommended. As it was reported in the previous cases, our patient also had aspiration pneumonia due to respiration and feeding problems and died in the third month of life.
4. Conclusion
In PRS patients morbidity and mortality rates increases due to the respiratory and feeding problems. The treatment of the patients with PRS requires multidiciplinary approaches. Nevertheless, these patients finally do not live longer according to their anatomical deformities.
References
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- . Aplasia of the epiglottis: a rare congenital anomaly. Ear Nose Throat J. 1998;77(January (1)):51–55
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- . Hypoplasia of the epiglottis in a middle-aged man. Eur. Arch. Otorhinolaryngol. 2005;262:470–472
PII: S1871-4048(10)00042-0
doi:10.1016/j.pedex.2010.05.008
© 2010 Elsevier Ireland Ltd. All rights reserved.
Volume 6, Issue 3 , Pages 137-139, September 2011
