Allergy and Airway |

Bifid Epiglottis as a Cause of Recurrent Pneumonia in a Patient With Bardet-Biedl Syndrome, A Ciliopathy FREE TO VIEW

Elizabeth Copenhaver, BS; Nicholas Mulhearn, DO; Safina Kureshi, MD; Kevin Maupin, MD
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WVU, Charleston, WV

Chest. 2013;144(4_MeetingAbstracts):48A. doi:10.1378/chest.1690364
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SESSION TITLE: Airway Student/Resident Case Report Posters

SESSION TYPE: Medical Student/Resident Case Report

PRESENTED ON: Tuesday, October 29, 2013 at 01:30 PM - 02:30 PM

INTRODUCTION: Ciliopathic diseases are associated with a broad spectrum of physical findings including bronchiectasis, situs inversus, postaxial polydactyly, and retinal abnormalities. Recent literature classifies Bardet-Biedl Syndrome (BBS) as a ciliopathy. BBS is a rare autosomal recessive disorder characterized by renal abnormalities, obesity, polydactyly, cone-rod dystrophy, and developmental delay. Bifid epiglottis, defined as a cleft in the epiglottis greater than two-thirds its length, is a rare anatomic anomaly that has been associated with BBS.

CASE PRESENTATION: A six year-old female with BBS presented for recurrent pneumonia evaluation. Her past medical history was significant for elevated creatinine, polydactyly, BBS, asthma, and recurrent pneumonia without previous history of stridor. She was diagnosed and treated for a left-sided pneumonia with complete resolution. Twelve days later, she presented with increased work of breathing and home pulse oximetry reading of 87% on room air; thus she was admitted with a diagnosis of right-sided pneumonia. High-Resolution Computed Tomography of the chest indicated no anatomical abnormality. Pulmonology was consulted and performed flexible fiberoptic bronchoscopy, which revealed a bifid epiglottis (Figure 1, 2) and tracheobronchomalacia. Genetic evaluation confirmed a homozygous BBS10 genetic mutation.

DISCUSSION: Typically, bifid epiglottis presents clinically with stridor, recurrent upper respiratory infections, and/or aspiration. Despite known associations of bifid epiglottis and other anatomic malformations, the etiology for the current presentation remains unclear. It has been theorized that simultaneous developmental errors affecting several organ systems, including the epiglottis, occurring between weeks three and ten contribute to characteristic structural anomalies. Despite the rarity of BBS, it is classified as a model ciliopathy, and one should be cognizant of a patient presenting with these syndromic features.

CONCLUSIONS: The combination of bifid epiglottis, homozygous BBS10 genetic mutation, and recurrent pneumonia in this case represents a unique presentation of BBS. This case report highlights the importance of upper airway evaluation in patients with Bardet-Biedl Syndrome.

Reference #1: Gibber, Marc and Abraham, Suzanne. Bassila, Maha K. Int. J. Pediatric Otolaryngology. Extra 6 (2011) 304-305. “Bifid epiglottis with cricopharyngeal dysfunction: A case Report.”

Reference #2: Zaghloul, Norann and Katsanis, Nicholas. "Mechanistic Insights into Bardet-Biedl Syndrome, a Model Ciliopathy." The Journal of Clinical Investigation 119.3 (2009): 428-37.

Reference #3: Ware, Stephanie, Gunay-Aygun, Meral, and Hildebrandt, Friedhelm. Proceedings of the American Thoracic Society, Vol. 8 2011. “Spectrum of Clinical Diseases Caused By Disorders of Primary Cilia.”

DISCLOSURE: The following authors have nothing to disclose: Elizabeth Copenhaver, Nicholas Mulhearn, Safina Kureshi, Kevin Maupin

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