以呼吸肌受累起病的运动神经元病一例回顾性分析

A Case of Motor Neuron Disease with Respiratory Muscle Involvement and Literature Review

目的探讨首诊为睡眠呼吸暂停低通气综合征的运动神经元病的误诊、漏诊原因及分析。方法对运动神经元病患者1例的临床资料进行回顾性分析。结果该例因胸闷、气促1年,进行性加重3个月入院。患者既往体健,平日有精神差、嗜睡、乏力、入睡后鼾声大等表现,近3个月患者入睡后鼾声明显减小。查动脉血气分析、心脏彩超、肺功能、胸部+鼻咽部CT、颅脑+颈部MRI等检查,初步诊断为胸闷、气促,查因:睡眠呼吸暂停低通气综合征,予扩张支气管、无创呼吸机辅助通气等对症治疗3 d,病情反复。随病情进展,临床表现加重,且逐渐出现言语含糊、饮水呛咳、强哭强笑、双手震颤及肌力、肌张力改变、出现病理反射等表现,转外院多次查肌电图及肌肉活检,证实至少3个区域上、下运动神经元同时受累并进行性加重,确诊运动神经元病(肌萎缩侧索硬化型),持续无创呼吸机辅助通气。出院后继续无创呼吸机辅助维持。结论运动神经元病少见,以胸闷、气促等呼吸肌乏力为首发表现的更是罕见,且早期表现无特异性,故该例患者首诊于呼吸科,是导致误诊、漏诊的主要原因。提高对该病的认识、加强与各临床科室间交流可减少误诊、漏诊。

Objective To investigate the causes and analysis of misdiagnosis and missed diagnosis of motor neuron disease in the first diagnosis of sleep apnea hypopnea syndrome.Methods The clinical data of 1 patient with motor neuron disease were retrospectively analyzed.Results In this case,due to chest tightness and shortness of breath for 1 year,progressive aggravation was admitted to hospital in March.The patient was physically healthy and had poor mental performance,lethargy,fatigue,and loud snoring after falling asleep.In recent 3 months,the patient’s snoring was significantly reduced after falling asleep.Check arterial blood gas analysis,cardiac color Doppler ultrasound,lung function,chest+nasopharyngeal CT,craniocerebral+neck MRI and other examinations,the initial diagnosis of chest tightness,shortness of breath investigation:sleep apnea hypopnea syndrome,symptomatic treatment of dilated bronchus,non-invasive ventilator assisted ventilation for 3 days,repeated disease.As the disease progresses,the clinical manifestations were aggravated,and the ambiguity of speech,coughing,strong crying,strong hands,tremors and muscle strength,changes in muscle tone,and pathological reflexes were gradually appearing.The electromyography and muscle biopsy were repeatedly examined in the external hospital.It was confirmed that at least 3 upper and lower motor neurons were involved and progressively aggravated,and the motor neuron disease(muscle atrophy lateral sclerosis type)was confirmed,and non-invasive ventilator assisted ventilation was continued.Continued non-invasive ventilator assisted maintenance after discharge.Conclusion Motor neuron disease is rare.It is rare to have respiratory muscle weakness such as chest tightness and shortness of breath.The early performance is not specific.Therefore,the first diagnosis of this patient in the respiratory department is the main cause of misdiagnosis and missed diagnosis,increasing the understanding of the disease and strengthening communication with various clinical departments can reduce misdiagnosis and missed diagnosis.