以肺动脉高压为表现的运动神经元疾病的误诊

Misdiagnosis Analysis of a Case with Motor Neuron Disease Whose Main Presentation Is Pulmonary Hypertension

目的加强对以肺动脉高压为主要表现的运动神经元疾病的认识,提高诊断率。方法回顾分析1例以肺动脉高压为主要表现的运动神经元疾病患者的临床资料,结合相关文献,详细分析该病的临床特点、早期征象和误诊原因。结果运动神经元疾病起病隐匿,进展缓慢,在出现呼吸系统症状前已有较长时间的肌肉萎缩和肌乏力等症状,查体有明显肌肉萎缩等特点。详细询问病史、系统的体格检查和简便呼吸肌检查,既可降低误诊率,又可避免进行一些既昂贵且创伤性大的检查。结论临床上对以肺动脉高压为主要表现的运动神经元疾病认识不足,极易延误诊断,应予重视。

Objective To summarize the clinical features of motor neuron disease(MND) with main presentation of pulmonary hypertension,so as to improve the diagnosis.Methods A patient with MND whose main presentation was pulmonary hypertension was analyzed retrospectively.Meanwhile related literatures were reviewed.Clinical data including symptoms,early signs,misdiagnosis causes,and necessary functional examination of respiratory muscle were collected.Results The symptoms of MND was slow-onset and insidious with gradual progression over time.History inquiring found that the symptoms of muscle wasting and physical debilitation emerged long time before the respiratory symptoms.Physical examination also revealed obvious sign of muscle atrophy.Conclusions MND with main presentation of pulmonary hypertension has been recognized insufficiently and often misdiagnosed as other pulmonary diseases.Detailed history taking,systematic physical examination,and convenient functional examination of respiratory muscle,can not only reduce misdiagnosis,but also avoid some expensive and traumatic process.