Christophe Abi Zeid Daou, Yara Yammine, Marc Mourad, Randa Al Barazi
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引用次数: 0
摘要
多发性内分泌肿瘤 2B 型(MEN2B)综合征是一种罕见的遗传性疾病,主要由 RET 原癌基因突变引起。MEN2B 表现出多种症状,影响多个器官系统,其中粘膜神经瘤是一个突出特征。这些良性肿瘤与甲状腺髓样癌和嗜铬细胞瘤共同构成了该综合征的临床变异性。文章介绍了一个病例研究,患者是一名被诊断为MEN2B的年轻女孩,甲状腺切除术后,喉神经瘤导致呼吸窘迫。喉神经瘤极为罕见,这凸显了识别这种表现以进行适当气道管理的重要性,尤其是在手术干预期间。尽管 MEN2B 罕见,但它给临床带来了巨大挑战,需要早期检测、遗传咨询和多学科管理以改善预后。临床医生必须对喉神经瘤等罕见表现保持警惕,以防止出现严重并发症,尤其是在手术过程中。
Laryngeal Neuromas in a 5-Year-Old With MEN2B: A Case Report and Literature Review.
Multiple endocrine neoplasia type 2B (MEN2B) syndrome is a rare genetic disorder primarily driven by mutations in the RET proto-oncogene. MEN2B exhibits diverse symptoms affecting multiple organ systems, with mucosal neuromas being a prominent feature. These benign tumors contribute to the syndrome's clinical variability, alongside medullary thyroid carcinoma and pheochromocytoma. The article presents a case study of a young girl diagnosed with MEN2B, complicated by laryngeal neuromas leading to respiratory distress post-thyroidectomy. Laryngeal neuromas are exceedingly rare, underscoring the importance of recognizing such manifestations for proper airway management, especially during surgical interventions. Despite its rarity, MEN2B presents significant clinical challenges, requiring early detection, genetic counseling, and multidisciplinary management for improved outcomes. Clinicians must remain vigilant for rare manifestations like laryngeal neuromas to prevent serious complications, particularly during surgical procedures.