运动神经元病并发阻塞性睡眠呼吸暂停低通气综合征、肺泡低通气综合征1例并文献复习

Obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome in motor neuron disease: A case report and literature review

目的:分析运动神经元病并发睡眠呼吸障碍、肺泡低通气综合征的临床特征,以提高对该病的认识和诊断。方法:回顾性分析中南大学湘雅二医院呼吸内科收治的1例因"呼吸困难、气促、乏力4个月余"至当地多家医院就诊的疑难病例,最终诊断为运动神经元病,阻塞性睡眠呼吸暂停低通气综合征,肺泡低通气综合征的52岁男性患者的临床诊治过程,并以("运动神经元病"或"肌萎缩侧索硬化"或"进行性延髓麻痹"或"进行性肌萎缩"或"原发性侧索硬化")和("睡眠呼吸暂停"或"睡眠呼吸障碍")为关键词检索知网、万方,("motor neuron disease"or"amyotrophic lateral sclerosis"or"progressive bulbar palsy"or"progressive muscular atrophy"or"primary lateral sclerosis")和("sleep apnea"或"sleep disordered breathing")为关键词检索PubMed数据库,进行相关文献复习,检索时间为1990年1月至2017年5月。结果:运动神经元病以上下运动神经元受损所致的肌无力、肌肉震颤、肌肉萎缩、延髓麻痹、锥体束征为主要临床表现,慢性进行性进展,预后较差,生存率低,诊断疑难,肌电图对诊断意义较大。运动神经元病常合并睡眠异常,表现为睡眠结构破坏,总睡眠时间、快动眼睡眠相减少,睡眠效率下降,觉醒时间和次数增加,睡眠呼吸障碍以低通气、夜间平均和最低血氧饱和度下降最常见,其次为中枢型睡眠呼吸暂停、混合型睡眠呼吸暂停,阻塞型睡眠呼吸暂停最少见。因呼吸肌、膈肌无力,也易出现限制性通气功能障碍、肺泡低通气,产生高二氧化碳分压,低氧血症;运动神经元病的主要死因为呼吸衰竭,故应尽早诊治,用力肺活量<预计值的70%或夜间血氧饱和度明显下降时建议使用无创呼吸机通气治疗。结论:运动神经元病易合并睡眠呼吸障碍,临床收治到此类患者应常规进行多导睡眠监测,及时发现潜在的合并症,尽早治疗。合理使用无创呼吸机治疗可提高患者生活质量和生存率,改善预后。

Objective： To investigate the clinical characteristics of a patient with motor neuron disease, which caused sleep-disordered breathing （SDB） and alveolar hypoventilation syndrome, and to improve the diagnosis rate for this disease. Methods： Retrospectively analyze the diagnosis and treatment process for a 52 year-old male patient, who was accepted by the Second Xiangya Hospital, Central South University because of dyspnea, shortness of breath and malaise for 4 months, and eventually was diagnosed as motor neuron disease associated with obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome. In addition, we searched CNKI, Wanfang and PubMed databases to review relevant literature with keywords （motor neuron disease or amyotrophic lateral sclerosis or progressive bulbar palsy or progressive muscular atrophy or primary lateral sclerosis） AND （sleep apnea or sleep disordered breathing） from January 1990 to May 2017. Results： qlae major clinical manifestation of motor neuron disease included impaired upper and lower motor neuron displayed with proximal muscle weakness, muscle tremor, amyotrophsy, bulbar symptoms and pyramidal sign. It was a chronic, progressive disease with worse prognosis, low survival and difficult in diagnosis. Electroneuromyography was a vital way for diagnosis. Furthermore, sleep disordered breathing was common in patients with motor neuron disease, which was featured as decreased rapid eye movement sleep, increased awaking time, apnea and hypopnea. The main mechanism for sleep disordered breathing in motor neuron disease might be due to the disturbed central nervous system and paralysis of diaphragm and respiratory muscle. Moreover, the patient suffered from restrictive ventilatory dysfunction, alveolar hypoventilation and subsequent partial pressure of carbon dioxide and hypoxemia. Therefore, respiratory failure was the most frequent cause of death for patients with motor neuron disease. Non-invasive positive pressure ventilation was suggested to apply to such patients, whose forced vital capability was less than 75 percent of predicted value. Conclusion： Sleep disordered breathing is common in patients with motor neuron disease. Hence, polysomnography is suggested as a routine examination to confirm the potential complications and give timely therapy. Treatment with non-invasive positive pressure ventilation is important for patients to improve life quality, survival rate and prognosis.