CAJ | 학술논문

目的：总结连枷臂(腿)综合征患者的临床、影像学、神经电生理及肌肉病理特点。方法收集2010-2013年我院住院治疗的4例连枷臂（腿）综合征患者。总结患者临床资料，对头和脊髓磁共振、脑脊液结果以及神经电生理检查和肌肉病理特点进行分析。结果4例患者中连枷臂为3例，连枷腿为1例；男3例，女1例；起病年龄为44~60岁。起病隐袭，临床进展相对缓慢。4例患者头颅磁共振示腔隙性脑梗死和脑白质脱髓鞘的改变。4例患者颈部（或腰部）MRI存在椎间盘突出，无明显椎管狭窄和脊髓压迫症状。3例患者查脑脊液结果正常。4例患者肌电图提示延髓、颈、胸、腰骶部4个区域中3个区域存在神经源性损害。神经传导速度检查2例正常，2例存在周围神经损害。3例患者肌肉病理提示存在神经源性损害。结论连枷臂（腿）综合征是ALS的一种变异型，病情进展较慢，呈良性过程。性别构成比，男性显著高于女性。常规头MRI和脑脊液检查多数正常，主要用于排除其他疾病。神经电生理和病理检查符合失神经支配的骨骼肌损害的特点。
목적：총결련가비(퇴)종합정환자적림상、영상학、신경전생리급기육병리특점。방법수집2010-2013년아원주원치료적4례련가비（퇴）종합정환자。총결환자림상자료，대두화척수자공진、뇌척액결과이급신경전생리검사화기육병리특점진행분석。결과4례환자중련가비위3례，련가퇴위1례；남3례，녀1례；기병년령위44~60세。기병은습，림상진전상대완만。4례환자두로자공진시강극성뇌경사화뇌백질탈수초적개변。4례환자경부（혹요부）MRI존재추간반돌출，무명현추관협착화척수압박증상。3례환자사뇌척액결과정상。4례환자기전도제시연수、경、흉、요저부4개구역중3개구역존재신경원성손해。신경전도속도검사2례정상，2례존재주위신경손해。3례환자기육병리제시존재신경원성손해。결론련가비（퇴）종합정시ALS적일충변이형，병정진전교만，정량성과정。성별구성비，남성현저고우녀성。상규두MRI화뇌척액검사다수정상，주요용우배제기타질병。신경전생리화병리검사부합실신경지배적골격기손해적특점。
Objective To summarize the clinical, head MRI, electrophysiological and pathological characteristics of flail arm syndrome (FA) and flail leg (FL) syndrome. Methods Four patients with flail arm (leg) syndrome who visited the neurological departments of Beijing Friendship Hospital were included and their clinical manifestations, head MRI, CSF test results, the electrophysiological and the pathological changes of skeletal muscle system were analyzed. Results The age of the patients was between 44 and 60 years. The main symptoms were chronic, progressive, severe weakness and muscle atrophy of bilateral arms or legs. The head MRI suggested multiple lacunar infarctions and white matter demyelination, which were not correlated with limb weakness. The cervical (or lumber) MRI showed no remarkable symptoms of spinal cord compression. The pressure, routine, biochemical tests of the cerebral spinal fluid (CSF) were normal, no oligoclonal bands were found, the 24h IgG synthesis rate was normal and no paraneoplatic antibodies were found in the CSF. Electromyography of 4 patients showed neurogenic changes in three of the four regions of the medulla oblongata, neck, chest, and lumbosarcal region. The muscle pathology of three patients revealed neurogenic impairment. Conclusion FA (FL) is a variant subtype of ALS. It progresses slowly and presents a benign clinical course. Brain MRI and cerebrospinal fluid routine tests are generally normal and could be used to rule out other diseases. Electrophysiological and pathological changes are consistent with the characteristics of denervated skeletal muscle disorders.