A Case Report of Absent Epiglottis in Children with Nager Syndrome: Its Impact on Swallowing

Abstract

The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries.

Bronchiectasis in the setting of aplasia of the epiglottis

“…Surgical epiglottectomy in adults has not been associated with swallowing difficulty or increased aspiration risk [14]. However, swallowing impairment and aspiration are present in many cases of absent epiglottis described here, particularly at a young age [5][6][7][8]. Whether its link to bronchiectasis in our case was causal remains conjectural as we did not find any other cause for his underlying bronchiectasis.…”

“…Congenital absence of the epiglottis is a rare condition. It is more commonly described in the literature as part of a syndrome, such as Nager syndrome, short polydactyly syndrome of the Majewski type, Pierre Robin sequence, or other non‐specific syndromic features . Isolated congenital aplasia of the epiglottis is less commonly described in the literature (Table ).…”

“…Development of the epiglottis begins around day 33 of life and is complete by day 48 of life, concurrent with the development of limbs and digits. Disruptions to organogenesis during this period result in abnormalities found in oro‐faciodigital syndromes in addition to abnormalities of the epiglottis .…”

Broad‐spectrum next‐generation sequencing‐based diagnosis of a case of Nager syndrome

“…Although a relatively high AFI and poor growth rate of the BPD were detected using prenatal ultrasound, the evidence was not enough to suggest a Nager syndrome problems, poor jaw opening, cleft palate, and an absent epiglottis. 16 Besides focusing on the corrective surgeries and early airway intervention, swallowing rehabilitation should be started early. However, some patients still do not have a normal swallowing function after corrective surgeries.…”

Epiglottic aplasia in an infant with Joubert syndrome

“…Table 3 details cases where infants presented with immediate stridor requiring intubation and ultimately tracheostomy tube placement with variable rates of decannulation with age. [8][9][10] It should be noted in all of these cases that these infants also had additional congenital anomalies which possibly contributed to their initial critical condition. Almost universally when epiglottic anomalies were noted in infancy, the child exhibited feeding difficulties and required either gastrostomy tube placement, nasogastric tube placement or dietary modifications with thickened consistencies as in the case we present.…”