小儿神经肌肉病病因和诊断方法分析  

Analysis of etiological factors and diagnostic methods of pediatric neuromuscular disease

作　　者：岳玲[1] 安会波[2] 郑华城[1] 王丽辉[1] 张均喜[3] 左月仙[1] 靳梅[1] 

机构地区：[1]河北省儿童医院神经内科,河北石家庄050011 [2]河北省儿童医院病理科,河北石家庄050011 [3]河北省儿童医院普外科,河北石家庄050011

出　　处：《临床荟萃》2014年第12期1345-1347,1351,共4页Clinical Focus

摘　　要：目的探讨小儿神经肌肉病不同诊断方法的价值及应用。方法回顾性分析河北省儿童医院神经内科接受肌肉活检和或基因检测确诊的258例小儿神经肌肉病患儿的临床资料。结果 258例病因涉及2大类9种疾病。遗传性肌病177例(68.5%,177/258),其中杜氏肌营养不良(DMD)最多(48.8%,126/258);脊肌萎缩症65例(25.2%,65/258),炎症性肌病共14例(5.4%,14/258)。185例肌酸激酶(creatine kinase,CK)不同程度增高,其中28例超过正常值上限百倍之上;肌电图60.0%(145/258)异常;258例中174例接受肌肉病理检查,122例明确诊断,182例接受了基因检测,136例确诊,44例经联合检测确诊,其中8例肌活检病理结果和基因检测结果均具有确诊意义。结论肌营养不良、脊肌萎缩症、线粒体脑肌病、多发性肌炎是我院小儿神经肌肉病常见病因,诊断需要临床、生化、电生理、肌活检病理学、基因检测综合分析,肌活检病理学和基因检测是确诊主要依据,给予联合检测可以提供全面的诊断信息。Objective To evaluate the diagnostic value and the application of different methods of pediatric neuromuscular disease. Methods A retrospective analysis was made on the clinical data of 258 cases of children in muscle biopsy and/or genetic test in the Department of Neurology,Children＇s Hospital of Hebei Province. Results The etiology for 258 cases involved two categories and nine kinds,including 177 cases of congenital myopathy,accounted for 68.5% （177/258）,among which pediatric muscular disorder（DMD） was the most, accounted for 48.8% （126/258）;65 cases of spinal muscular atrophy, accounted for 25.2% （65/258）;14 cases of inflammatory myopathy, accounted for 5.4% （14/258）. A total of 185 cases of creatine kinase（CK） increased in different degrees,of which 28 cases exceeded the upper limit of normal value a hundred times;60.0 % （145/258） patients showed abnormal electromyography. There were 174 cases who underwent muscle biopsy, of which 122 cases were diagnosed; 182 patients were detected with genetic test,of which 136 cases were diagnosed;44 cases were examined with combined detection,of which 8 cases had the diagnosis significance. Conclusion Muscular dystrophy, spinal muscular atrophy, mitochondrial encephalomyopathy anZd polymyositis are the main etiological factors of the children with neuromuscular disease etiology in the hospital. Diagnosis needs comprehensive analysis based on clinical biochemical, electrophysiological, muscle biopsy pathology,gene detection, muscle biopsy pathology and genetic test. The muscle biopsy pathology and genetic test are the main basis to make definite diagnosis, comprehensive diagnostic information may be provided through combined detection.

关 键 词：神经肌肉疾病 活组织检查 基因 病因学 

分 类 号：R741.02[医药卫生—神经病学与精神病学]