摘要
目的 总结先天性肌营养不良（CMD）常见亚型的临床表现和大腿肌肉磁共振成像（MRI）特点,探讨骨骼肌MRI在肌病诊断中的意义.方法 选择2013年4月至2015年11月在北京大学第一医院儿科就诊,经基因检测确诊为CMD的8例患儿为研究对象,描述性分析其临床及双侧大腿肌肉MRI特点.结果 8例患儿中男4例,女4例,检查时中位年龄2.2（0.9-4.8）岁.其中被诊断为CMD伴远端关节松弛症2例,CMD伴早期脊柱强直1例、LMNA相关CMD1例、CMD1C型1例,层黏连蛋白-以缺乏症3例.8例患儿均于新生儿期至婴儿期出现肌无力、肌张力低下,运动发育落后,合并关节挛缩,部分存在脊柱畸形、皮肤改变等表现.大腿肌肉MRI提示所有患儿臀大肌及大腿肌肉均存在不同程度脂肪化,CMD不同亚型肌肉脂肪化分布形式及程度存在差异;其中5例出现水肿,7例出现肌肉萎缩,均无肌肉肥大;1例存在半膜肌缺如.结论 CMD临床及大腿肌肉MRI表现具有一定特点,部分亚型间肌肉脂肪化及萎缩存在差异.MRI中肌肉改变特点结合临床表现,可以为基因检测等诊断方法的选择提供有效信息,有助于疾病诊断.
Objective To analyze the clinical and magnetic resonance imaging （MRI） features of congenital muscular dystrophy （CMD） to improve the diagnostic level.Method Clinical manifestations and thigh muscle MRI results of 8 cases of CMD diagnosed on genetic level from April 2013 to November 2015 were investigated.MRI was performed on the thigh muscles of all cases.Fatty infiltration of different muscles described in T1WI was graded to evaluate.Clinical symptoms and signs,as well as muscle MRI features were analyzed by statistical description.Result Among these 8 cases,2 cases were diagnosed with Ullrich congenital muscular dystrophy （UCMD）,1 case had rigid spine with muscular dystrophy type 1 （RSMD1）,1 case had LMNA related muscular dystrophy （L-CMD）,1 case had congenital muscular dystrophy 1C （MDC1C） and 3 cases had congenital muscular dystrophy 1A （MDC1A）,with 4 were males and 4 fcmales,aged from 0.9 year to 4.8 years （median age was 2.2 years）.All of these 8 cases presented with muscle weakness and hypotonia from birth to within the first six months,together with delayed motor development and joint contractures.Some cases had spinal deformity or skin changes.Various degrees of fatty infiltration in gluteus maximus and thigh muscles were shown in all of the cases,and differences among CMD subtypes in the form of fatty infiltration were detected;muscle edcma was present in 5 cases,and muscle atrophy in 7 cases.However,none of them has muscle hypertrophy.Semimembranous muscle absence was detected in 1 case.Conclusion The clinical manifestations and thigh muscle MRI findings of CMD have some features,and vary in certain CMD subtypes.MRI examination combined with clinical features may provide useful information to select appropriate genetic or other diagnostic techniques,which may help clinicians to make accurate diagnosis.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2016年第10期756-760,共5页
Chinese Journal of Pediatrics
基金
国家重点基础研究发展计划（2012CB944602）
国家自然科学基金（81271400、81571220）
关键词
肌营养不良
磁共振成像
儿童
Muscular dystrophies
Magnetic resonance imaging
Child
