伴腓肠肌肥大的脊髓性肌萎缩症(附1例报告及文献复习)  

A Case of Spinal Muscular Atrophy with Gastrocnemius Muscle Lypertrophy and Literature Review

作　　者：纪娜 王宁宁 王鑫[1] 陈舒颖 薛群[1] 朱雯华 刘美蓉[1] JI Na;WANG Ning-ning;WANG Xin;CHEN Shu-ying;XUE Qun;ZHU Wen-hua;LIU Mei-rong(Department of Neurology,the First Afiliated Hospital of Soochow University,Suzhou 215006,China;Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China)

机构地区：[1]苏州大学附属第一医院,苏州215006 [2]复旦大学附属华山医院神经内科,上海200040

出　　处：《中国临床神经科学》2025年第1期93-99,共7页Chinese Journal of Clinical Neurosciences

基　　金：苏州大学附属第一医院青年特色技术(编号:0302020301046)。

摘　　要：目的 分析伴腓肠肌肥大的脊髓性肌萎缩症(SMA)临床特点及机制。方法 收集1例伴腓肠肌肥大的非典型SMA患者临床资料,回顾分析临床表现、电生理、肌肉病理、基因检测及诊疗经过,结合相关文献进行分析。结果 患者为中年男性,主要表现为双下肢乏力伴大腿前群肌肉萎缩,查体发现双下肢近端无力、双侧腓肠肌明显肥大。肌酸激酶升高。神经肌肉疾病相关全基因检测未发现责任基因。入院后完善肌肉MRI,提示选择性累及股外肌、股内肌、股中间肌,而股直肌回避,双侧腓肠肌肥大及压脂相高信号,经肌肉活检、复查肌电图,完善SMA检测明确SMA基因突变,诊断为SMAⅣ型。结论 SMA以明显腓肠肌肥大、选择性累及股四头肌,而股直肌回避为主要表现者少见。早期明确诊断尽早SMA治疗可缓解病情进展。Aim To investigate the clinical characteristics and underlying mechanisms of spinal muscular atrophy(SMA)with gastrocnemius muscle hypertrophy.Methods A retrospective analysis was conducted on the clinical presentation,electroencephalogram findings,muscle pathology,genetic testing results,and diagnostic and therapeutic approaches of a patient with atypical SMA and gastrocnemius muscle hypertrophy.Relevant literature was also reviewed.Results The patient,a middle-aged male,presented primarily with bilateral lower limb weakness and atrophy of the anterior thigh muscles.Physical examination revealed proximal muscle weakness in both legs,along with pronounced hypertrophy of the bilateral gastrocnemius muscles.Elevated creatine kinase levels were observed,and whole-genome sequencing for neuromuscular diseases did not identify any causative mutations.The MRI of the muscles revealed selective involvement of the vastus lateralis,vastus medialis,and vastus intermedius,with sparing of the rectus femoris.The bilateral gastrocnemius muscles were hypertrophic,displaying high signal intensity on STIR sequences.After muscle biopsy and re-examination of electromyography,SMA gene mutation was confirmed and SMA TypeⅣwas diagnosed.Conclusion SMA with prominent gastrocnemius hypertrophy,selective involvement of the quadriceps,and sparing of the rectus femoris is a rare clinical presentation.Early diagnosis and intervention can help slow disease progression.

关 键 词：脊髓性肌萎缩症 腓肠肌肥大 肌肉核磁 肌肉病理 

分 类 号：R744[医药卫生—神经病学与精神病学]