Saif Saif A, Alzaidi Suzan S, Alghamdi Abdullah F, Alharazi Amal A, Almansouri Omar S, Fadag Rehab
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.
Otolaryngology, Head and Neck Surgery, King Fahad Armed Forces Hospital, Jeddah, SAU.
Cureus. 2023 Apr 19;15(4):e37849. doi: 10.7759/cureus.37849. eCollection 2023 Apr.
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.
会厌裂是一种罕见的先天性喉部异常，通常是综合征的一部分而非孤立存在。它与特定综合征相关，如帕利斯特 - 霍尔综合征、巴德 - 比德尔综合征及其他相关综合征。巴德 - 比德尔综合征是一种罕见的常染色体隐性疾病，其特征为手足多指（趾）畸形、肥胖、身材矮小、智力发育迟缓、肾脏异常和生殖器异常。本文报告一例25岁沙特男性患者，自出生以来即出现声音嘶哑，与昼夜或饮食无关，也无其他相关症状。检查发现，他有颅面畸形以及右手和左脚多指（趾）畸形。纤维鼻咽喉镜检查显示喉部有一个带蒂的圆形声门肿物，声门下在呼气时膨出，吸气时回缩，同时会厌外观异常，有一个单独的软骨框架，中间有间隙，双侧声带活动正常。计算机断层扫描（CT）显示有声带肿物和会厌裂。其他检查和实验室检查结果均在正常范围内。患者接受了声带肿物切除术，软组织组织病理学检查显示为良性生长。随访时，患者临床症状有所改善。总之，这是一例罕见的与巴德 - 比德尔综合征相关的会厌裂病例，凸显了此类异常在任何有气道症状的综合征患者中的重要性。我们的目的是在文献中增加更多病例，并将其作为鉴别诊断考虑。
