Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature.
| Autor: | Saif SA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Alzaidi SS; Otolaryngology, Head and Neck Surgery, King Fahad Armed Forces Hospital, Jeddah, SAU., Alghamdi AF; Medicine and Surgery, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Alharazi AA; Otolaryngology, Head and Neck Surgery, Al-Qunfudah Health Affairs Directorate, Qunfudah, SAU., Almansouri OS; Medicine and Surgery, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU., Fadag R; Histopathology, King Fahad Armed Forces Hospital, Jeddah, SAU. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Apr 19; Vol. 15 (4), pp. e37849. Date of Electronic Publication: 2023 Apr 19 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.37849 |
| Abstrakt: | Bifid epiglottis is a rare congenital laryngeal anomaly that is most commonly a syndromic rather than an isolated entity. It has been associated with specific syndromes, such as Pallister-Hall syndrome, Bardet-Biedl syndrome, and other related syndromes. Bardet-Biedl syndrome is a rare autosomal-recessive disorder characterized by hand and/or feet polydactyly, obesity, short stature, mental retardation, renal anomalies, and genital anomaly. Here we report a case involving a 25-year-old Saudi male patient who presented with hoarseness of voice since birth with no diurnal or diet association or other associated symptoms. On examination, he was noted to have craniofacial dysmorphism and polydactyly of the right hand and left foot. Fiberoptic nasopharyngolaryngoscopy (NPLS) revealed a laryngeal pedunculated rounded glottic mass and subglottic bulging with expiration and involuting with inspiration along with an abnormal-looking epiglottis having a separate cartilaginous framework with space in-between and bilateral mobile vocal cords. Computed tomography (CT) showed the vocal cord mass and a bifid epiglottis. Other investigations and labs were within normal range. The patient underwent vocal cord mass excision and soft tissue histopathology revealed a benign growth. On follow-up, the patient showed clinical improvement. In conclusion, this is a rare case of bifid epiglottis associated with Bardet-Biedl syndrome, which serves to highlight the significance of such anomalies in any syndromic patient presenting with airway symptoms. Our aim is to add more cases to the literature and to consider it as a differential diagnosis. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Saif et al.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|