面部起病的感觉运动神经元病综合征临床及神经电生理特点分析

目的:探讨面部起病的感觉运动神经元病（FOSMN）综合征的临床特点及电生理特点。方法:收集2012年1月至2022年12月在北京协和医院诊断为FOSMN综合征的患者10例，对患者的临床及电生理特点进行分析和总结，同时对患者进行基因检测，明确其基因变异类型。结果:10例患者的发病年龄为（56.6±6.5）岁，病程最长达10年。所有患者均以面部及口周麻木为首发症状，伴有瞬目反射异常。感觉神经传导检测共检测神经52条，其中2条正中神经、2条尺神经出现感觉神经动作电位波幅减低。针极肌电图结果均提示神经源性损害，呈现进行性失神经与慢性失神经并存的改变。1例患者全外显子组测序提示 SOD1基因4号外显子c.272A>C（p.Asp90Ala）杂合变异。所有患者病情均持续进展，晚期出现呼吸肌受累。 结论:FOSMN综合征的神经电生理检查具有典型改变，瞬目反射异常为其主要特征，还可合并感觉神经传导异常。Objective: To investigate the clinical and electrophysiological characteristics of facial-onset sensory and motor neuronopathy (FOSMN) syndrome. Methods: A total of 10 patients diagnosed with FOSMN syndrome in Peking Union Medical College Hospital from January 2012 to December 2022 were enrolled. Clinical and electrophysiological features were analyzed and summarized, and genetic testing was conducted to clarify the types of gene variants. Results: The onset age of the 10 patients was (56.6 ± 6.5) years, with the longest disease duration reaching 10 years. All patients presented with facial and perioral numbness as the initial symptom, accompanied by abnormal blink reflexes. A total of 52 sensory nerves were examined via sensory nerve conduction studies, among which the sensory nerve action potential amplitudes of 2 median nerves and 2 ulnar nerves were reduced. Needle electromyography results all indicated neurogenic damage, showing coexisting changes of progressive denervation and chronic denervation. Whole-exome sequencing was performed in 1 patient, which revealed a heterozygous variant c.272A>C (p.Asp90Ala) in exon 4 of the SOD1 gene. All patients experienced continuous disease progression, and respiratory muscle involvement occurred in the advanced stage. Conclusion: Neuroelectrophysiological examinations of FOSMN syndrome present typical changes, with abnormal blink reflexes as the main characteristic, which may also be accompanied by abnormal sensory nerve conduction.