连枷臂综合征临床与病理分析

目的研究连枷臂综合征(FAS)的临床和病理特点。方法回顾性收集整理90例肌萎缩侧索硬化患者的临床资料,从中筛选出FAS患者,并总结分析其临床表现、实验室检查、电生理及活检骨骼肌病理特点。结果 90例肌萎缩侧索硬化患者中有8例为连枷臂综合征。连枷臂综合征患者主要临床特征为对称性双上肢肌无力和肌萎缩;血肌酸激酶正常或轻中度升高;肌电图显示脊髓4个节段中3个或以上支配区出现纤颤、正相波,动作单位电位增宽、增高。活检骨骼肌主要病理表现为小角化肌纤维、肌原纤维网紊乱、"靶纤维"。结论连枷臂综合征是肌萎缩侧索硬化的临床变异型,电生理检查能发现亚临床脊髓受累,有助于连枷臂综合征的诊断和鉴别诊断。

Clinical and pathological features of flail arm syndrome: an analysis of 8 cases

Objective To investigate the clinical and pathological features of flail arm syndrome （FAS）. Methods The clinical data of 90 patients with amyotrophic lateral sclerosis （ALS） were collected, and cases of FAS were screened out. The clinical manifesta- tions, laboratory examination results, electrophysiological results, and pathological characteristics （based on biopsy） of skeletal mus- cles were summarized and analyzed. Results Eight of ALS patients were diagnosed with FAS. The main symptoms of FAS were sym- metric weakness and atrophy of bilateral upper extremities. Serum level of creatine kinase was normal or increased mildly or moderate- ly. The electromyography showed that 3 or more innervated areas of the four segments of spinal cord had fibrillation and positive wave, with broadened and heightened motor unit action potential. The main pathological characteristics included small angular fibers, disorder of myofibrillar network, and target fibers. Conclusions FAS is a clinical variant of ALS. Electrophysiological examination can detect subclinical spinal cord involvement and helps the diagnosis and differential diagnosis of FAS.