Clinical Department of Geriatrics, Lithuanian University of Health Sciences, 44307 Kaunas, Lithuania.
Department of Otorhinolaryngology, Lithuanian University of Health Sciences, 44307 Kaunas, Lithuania.
Medicina (Kaunas). 2022 May 9;58(5):647. doi: 10.3390/medicina58050647.
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. Only about 10% of ALS patients survive more than 10 years. Clinical studies show that multidisciplinary care statistically significantly improves survival compared to neurological care. ALS tends to manifest as limb weakness, but some patients present with bulbar symptoms, such as dysphagia and dysarthria. In rarer cases, the main symptom of ALS is oropharyngeal dysphagia. Respiratory muscle weakness is a relatively rare symptom at the onset of this disease and may lead to a fatal outcome due to aspiration pneumonia within about 1.4 years. These reasons led to a particularly complicated diagnosis of ALS in a 66-year-old Caucasian female patient complaining of dyspnoea and coughing while drinking water. Notably, dyspnoea is only present in one out of four treatment-seeking patients, and the course of ALS is non-specific. For these reasons, the diagnosis took an entire year while the patient underwent many tests and visited many specialists. However, the diagnosis was only made at a late stage of the disease. At present, the patient is almost unable to swallow food, water, or saliva, and is at a very high risk of aspiration, but refuses to have a percutaneous endoscopic gastrostomy performed. The objective of this case report is to highlight the fact that a symptom as simple as difficulty swallowing may be the result of severe disease, a frequent outcome of which is death.
肌萎缩侧索硬化症（ALS）是最常见的运动神经元疾病。只有约 10%的 ALS 患者能存活 10 年以上。临床研究表明，与神经科护理相比，多学科护理在统计学上显著提高了生存率。ALS 倾向于表现为肢体无力，但有些患者表现为延髓症状，如吞咽困难和构音障碍。在罕见情况下，ALS 的主要症状是口咽吞咽困难。呼吸肌无力是该病发病时相对罕见的症状，可能导致致命的吸入性肺炎，约在 1.4 年内发生。这些原因导致一位 66 岁的白人女性患者因饮水时呼吸困难和咳嗽而特别复杂地诊断为 ALS。值得注意的是，呼吸困难仅出现在四分之一寻求治疗的患者中，而 ALS 的病程是非特异性的。出于这些原因，尽管患者接受了许多检查并看了许多专科医生，但诊断仍花费了整整一年的时间。然而，该诊断仅在疾病晚期做出。目前，该患者几乎无法吞咽食物、水或唾液，存在很高的吸入风险，但拒绝进行经皮内镜胃造口术。本病例报告的目的是强调一个简单的症状，如吞咽困难，可能是严重疾病的结果，其常见结局是死亡。
