ENT, Hospital Pedro Hispano, Matosinhos, Portugal
Centro Hospitalar Universitário de São João, Porto, Portugal.
BMJ Case Rep. 2021 Feb 23;14(2):e234504. doi: 10.1136/bcr-2020-234504.
Amyotrophic lateral sclerosis (ALS) is a progressive and late-onset fatal neurodegenerative disease characterised by selective death of motor neurons. The aetiology of ALS is still unknown and it is extremely heterogeneous in genetics and clinical presentation, being the respiratory failure the usual cause of death. We describe a case of a 61-year-old male patient referred to the otolaryngology consultation for a 6-month history of progressive solid dysphagia and dysphonia. The patient presented several voice alterations such as a dysarthric speech with hypernasal voice which evoked the hypothesis of a neuromuscular disease. That patient was observed by a neurologist and was submitted to an electromyography that confirmed the ALS diagnosis. This case highlights the key role of otolaryngologists in the diagnosis of ALS, in a way that many patients with a bulbar ALS form are initially studied by an otolaryngologist.
肌萎缩侧索硬化症(ALS)是一种进行性和迟发性致命的神经退行性疾病,其特征是运动神经元的选择性死亡。ALS 的病因仍不清楚,其在遗传学和临床表现上极具异质性,呼吸衰竭是常见的死亡原因。我们描述了一位 61 岁男性患者的病例,该患者因进行性固体吞咽困难和声音嘶哑 6 个月而被转介至耳鼻喉科会诊。该患者出现了多种声音改变,如构音障碍,鼻音过高,这提示可能患有神经肌肉疾病。该患者由神经科医生观察,并接受了肌电图检查,该检查证实了 ALS 的诊断。该病例突出了耳鼻喉科医生在 ALS 诊断中的关键作用,因为许多延髓 ALS 患者最初由耳鼻喉科医生进行研究。