延髓起病型运动神经元病合并阻塞性睡眠呼吸暂停综合征1例

Bulbar onset motor neuron disease with double degree obstruction sleep apnea syndrome:a case report

本文报告1例34岁男性患者,以吐词不清、饮水呛咳起病,病情加重后逐渐出现四肢无力,双手和后背肌肉萎缩,白天困倦及疲劳等。体格检查:咽反射减弱,背阔肌、双手大小鱼际肌、骨间背肌萎缩,双上肢肌张力降低,双下肢肌张力增高,上下肢肌力不同程度下降,腹壁反射减弱,膝腱反射亢进,双侧Babinsk征及其他上下运动神经元选择性受累体征阳性。结合肌电图检查及多导睡眠图监测(polysomnography,PSG)诊断为延髓起病型运动神经元病(bulbar-onset motor neuron disease,Bo-MND)合并阻塞性睡眠呼吸暂停综合征(obstructive sleep apnea hypopnea syndrome,OSAHS),口服利鲁唑及系统康复治疗后好转出院,随访1个月患者死亡。Bo-MND合并OSAHS病例罕见,且OSASH发病隐匿,通过分享该病例的临床诊治过程提高对该类疾病认识,避免漏诊。

A 34-year-old male patient initially presented with slurred speech and choking on drinking water,and gradually developed weakness of limbs,atrophy of hands and back muscles,daytime sleepiness and fatigued.Physical examination showed that the muscle tension of both upper limbs decreased and the lower increased,the latissimus dorsi,thenar muscles of both hands,and interosseous dorsal muscles atrophied,the muscle strength of upper and lower limbs decreased to varying degrees.The pharynx reflex and abdominal wall reflex weakened,while the knee tendon reflex became hyperactive.There were positive Bilateral Babinsk sign positive and other positive signs of selective involvement of upper and lower motor neurons.Combined with electromyography and polysomnography(PSG),patient was diagnosed as having bulbar onset motor neuron disease(Bo-MND)combined with obstructive sleep apnea syndrome(OSAHS).After oral administration of riluzole and systematic rehabilitation,the patient was discharged.The patient died after 1 month follow-up.Given the rare nature of Bo-MND complicated with OSAHS and the insidious onset of OSASH in this case,the present report may increase our understanding of this kind of disease and avoid missed diagnosis.