Volume 1, Issue 2 , Pages 115-118, June 2006
Bifid epiglottis revisited
Article Outline
- Summary
- 1. Background
- 2. Presentation of cases
- 3. Discussion
- Appendix A. Supplementary data
- References
- Copyright
Summary
Bifid epiglottis is an extremely rare congenital laryngeal anomaly which has been increasingly associated with genetic syndromes. The true bifid epiglottis has been distinguished in the past from an epiglottis that is notched or has a submucous cleft, as the latter was not felt to be related to other congenital anomalies. Presented are two cases of bifid epiglottis, one with a complete cleft, and one with a submucous cleft; both children had associated abnormalities. The implications of bifid epiglottis and associated syndromes are discussed.
Keywords: Epiglottis, Larynx, Bifid, Cleft, Stridor, Aspiration, Congenital
1. Background
Bifid epiglottis has rarely been reported in the literature, but with an increasing awareness of its linkage to genetic syndromes. Children born with epiglottic clefts can have multiple congenital anomalies as well, such as polydactyly, cleft palate, hypopituitarism, and genitourinary abnormalities [1], [2], [3], [4], [5], [6], [7], [8], [9], [10], [11], [12], [13], [14], [15], [16], [17], [18].
2. Presentation of cases
The case review protocol was submitted to the Institutional Review Board at the University of Mississippi Medical Center, and an exemption (#2005-0117) was granted.
2.1. Case 1
A 4-year-old boy was referred to the pediatric otolaryngology clinic in October 2002 for a quiet voice since birth. He spoke mostly in whispers, but was able to shout with agitation. His language was delayed, with a small vocabulary for age and many articulation errors; speech therapy had made little improvement. Medical history was significant for chronic otitis media, and he underwent adenotonsillectomy at 2 years of age. Birth history was normal, and family history was negative for congenital abnormalities or consanguinity. Developmentally, the child was delayed and in a special school setting. Physical examination was significant for otitis media with effusion, severe myopia, low-set ears, micrognathia, a high arched palate, and micropenis. Flexible fiberoptic laryngoscopy was suggestive of a laryngeal web.
He was taken to the operating room for tympanostomy tube placement and laryngoscopy. At the time of surgery, he was noted to have a bifid epiglottis, with a submucous cleft (Fig. 1). Additionally, there was Grade 1 subglottic stenosis and membranous laryngeal webbing at the anterior subglottic region (Fig. 2), which was divided with microscissors and treated with topical mitomycin-C.
Fig. 1.
Bifid epiglottic cartilage with submucous cleft in patient number 1.
Fig. 2.
Anterior subglottic web in patient number 1.
Postoperatively, his voice improved substantially, but he remained developmentally delayed. A genetics evaluation could not relate phenotypic features to any specific syndrome; karyotype was 46 (xy); fluorescent in situ hybridization (FISH) showed no abnormality at the 22q11 region. Amino acid profile and high-risk supplemental screening were normal.
2.2. Case 2
A 10-week-old boy was referred to the pediatric otolaryngology clinic in March 2004 for noisy breathing since birth. His mother stated that he had stridor that was worse with agitation, a hoarse voice, and coughing with feeding. He also was noted at birth to have a small penis, bilateral cryptorchidism, and polydactyly (14 fingers, with 2 fused digits on both hands, 11 toes).
Physical examination demonstrated mild stridor and a wet cough. He was taken for operative laryngoscopy, which showed complete clefting of the epiglottis (Fig. 3), and a type I laryngeal cleft (Fig. 4); that is, clefting of the interarytenoid soft tissue but an intact cricoid ring. Grade 1 subglottic stenosis with an elliptical ring was noted. A small midline lingual cyst was also identified and marsupialized.
Fig. 3.
Completely clefted epiglottis in patient 2.
Fig. 4.
Type 1 posterior laryngeal cleft in patient 2.
Postoperatively, he was scheduled for a modified barium swallow to evaluate for aspiration, but after he was uncooperative for his initial study, his mother did not show for several appointments. He continued to gain weight albeit slowly and his voice improved as well. Follow-up endoscopy at the time of his orchiopexy again showed the epiglottic cleft and posterior laryngeal cleft. He continues to have audible aspiration of oral secretions, but has not developed pneumonia to date. His mother does not wish to have any further evaluation or surgery of his larynx at this time.
Genetics evaluation showed that in addition to polydactyly, he also had significant brachydactyly and short stature (5th percentile height, 10th–25th percentile weight). Again, a definitive syndrome could not be diagnosed by the geneticist.
3. Discussion
A true bifid epiglottis, in which the epiglottis is divided into two distinct halves, is quite rare. Some of these have been associated with specific syndromes, including Pallister–Hall, Laurence–Moon–Bardet–Biedl spectrum, and Joubert [16], [17], [19], [20]; many other patients with bifid epiglottis have had extralaryngeal congenital abnormalities as well, with the most common being polydactyly (Table 1) [2], [3], [4], [6], [7], [8], [9], [10], [11], [12], [13], [14]. Linkage to other extralaryngeal anomalies by embryologic staging has been previously described [4].
Table 1. Features associated with bifid epiglottis among 25 reported patients
| Abnormality | Incidence (%) |
|---|---|
| Digital abnormalities | 84 |
| Cleft lip/palate | 24 |
| Micropenis | 28 |
| Renal abnormalities | 24 |
| Anal malformations | 20 |
| Hypospadias | 16 |
| Hypothalamic hamartoma | 12 |
| Hypopituitarism | 16 |
| Heart defects | 12 |
| Hirshprung disease | 12 |
| Developmental delay | 77 |
| Perinatal Death | 12 |
In the second case reported herein, the child clinically appeared to have aspiration, but his mother was not compliant with his radiographic evaluation despite our urging and was not concerned about it since he had had no episodes of pneumonia. Had aspiration been diagnosed, thickening of foods and possibly gastrostomy may have been necessary. Partial epiglottectomy has been described for cases of airway obstruction due to floppiness of the epiglottic halves in patients with bifid epiglottis [2], [10], [13], [17]. Repair of the epiglottis has been reported in one patient [10], but did not improve the child's airway.
A “submucous cleft” or notching of the superior epiglottis, as noted in the first case reported here, is a more common incidental finding on laryngoscopy, and has not been typically associated with other congenital abnormalities in the past [12]. However, one of the two siblings with Bardet–Biedl syndrome reported by Stevens and Ledbetter has a completely bifid epiglottis while his brother appears to have more of a notched epiglottis rather than two distinct halves [20]. Furthermore, patient #1 in the current report had several phenotypic features of Bardet–Biedl syndrome, such as poor vision, a high arched palate, developmental delay, and micropenis. Therefore, when an otolaryngologist finds an incidental notching or submucous cleft of the epiglottis, he or she should be aware that associated anomalies may exist in syndromes with variable expressivity, and some of these features may not be immediately recognized, such as genitourinary abnormalities and endocrine abnormalities.
Appendix A. Supplementary data
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PII: S1871-4048(06)00032-3
doi:10.1016/j.pedex.2006.01.008
© 2006 Elsevier Ireland Ltd. All rights reserved.
Volume 1, Issue 2 , Pages 115-118, June 2006
