Kasapoglu Fikret, Ozdemircan Talip, Erisen Levent
Department of Otorhinolaryngology, Uludag University Faculty of Medicine, Izmir Yolu Uzeri, 10659 Nilufer, Bursa, Gorukle 16059, Turkey.
Ear Nose Throat J. 2013 Jun;92(6):E31. doi: 10.1177/014556131309200619.
Neurofibromatosis (NF) is a genetically inherited, autosomal dominant disease, characterized by multiple cafe au lait spots, cutaneous neurofibromas and "Lisch nodules." Neurofibromatosis can develop from a neural source at any age. However, neurofibroma of the larynx is extremely rare and is usually manifested by obstructive airway symptoms. We encountered a 5-year-old child presenting with stridor and dyspnea, who had a diagnosis of laryngeal plexiform neurofibroma. The purpose of our report is the consideration of laryngeal NF in the differential diagnosis of dyspnea in infants and children.
神经纤维瘤病(NF)是一种常染色体显性遗传疾病,其特征为多发性咖啡牛奶斑、皮肤神经纤维瘤和“Lisch结节”。神经纤维瘤病可在任何年龄从神经源发生。然而,喉部神经纤维瘤极为罕见,通常表现为气道阻塞症状。我们遇到一名5岁儿童,出现喘鸣和呼吸困难,诊断为喉部丛状神经纤维瘤。我们报告的目的是在婴幼儿和儿童呼吸困难的鉴别诊断中考虑喉部神经纤维瘤病。