先天性肌缺如2例及相关文献复习

Two Cases Report and Literature Review of Congenital Absence of Muscles

目的增加对先天性肌缺如的认识，提高诊断水平。材料与方法（一）收集我院cT诊断先天性肌缺如病例2例；（二）通过万方数据库输入“先天性肌缺如”搜索到相关文章59N，其中个案报道54篇，短篇报道3篇，论著1篇（含¨例病例），另1篇题目为“先天性肌缺如82例资料分析”的报道无具体的病例资料没有录入本次统计资料中；文献报道时间2000—2012年间。结果纳入本次统计分析的共77例病例，男45例、女32例，年龄自出生1小时～71岁；胸大肌、胸小肌、胃壁肌层缺如各1例，腹直肌缺如4例，膈肌部分或全部缺如6例，手部肌肉部分缺如12例，眼肌缺如52例。4例经CT诊断，其中2例因其他疾病行CT检查时偶然发现；4例经尸检诊断，其中3例膈肌缺如致膈疝；其余69例均为临床术后诊断。结论先天性肌缺如少见，大部分病例经临床诊断，影像诊断的少，本组资料含4例经CT诊断的病例；因眼肌、手部肌肉缺如致功能障碍临床就诊并经手术诊断的病例多，无功能障碍的如单纯胸大肌、胸小肌、腹直肌缺如的病例少，并多为偶然发现。先天性肌缺如影像报道少见，传统的X线诊断价值有限，但CT、MRI软组织分辨率高，术前可以准确诊断，日常工作中应引起重视。

Objective To improve the knowledge and diagnosis of congenital absence of muscles. Materials and Methods （1） 2 cases report of congenital absence of muscles diagnosed in our hospital were collected which diagnosed by CT. （2） 59 articles were found by searching keywords ＇congenital absence of muscles＇ in Wanfang data base, including 54 single case reports, 3 short reports, and 1 treatise（containing 11 cases）. One paper named ＇Analysis of 82 cases of congenital absence of muscles＇ is not included in this report, due to the lack of detailed description of cases. All the literatures reviewed are form 2000 to 2012.Results 77 cases were anylysed in this report, including 45 males and 32 females. The age group is form 1 hour after birth to 71 years old. There are 1 case of absence of ectopectoralis, 1 case of absence of entopectoralis, l case ofabsence of the muscular layer of the stomach, 4 case of absence o：[ rectus abdominis, 6 partial or complete absence of diaphragm , 12 cases of hand muscle part absence and 52 cases of eye muscle absence.4 cases were diagnosed by CT scan and 2 of the cases were diagnosed accidentally, 4 cases were diagnosed during autopsy, diaphragmatic hernia were found in 3 cases due to the absence of diaphram; and the rest 69 cases were diagnosed post operation. Conclusion Congenital absence of muscles is rare and a few of them are diagnosed by iconography. There are 4 cases are diagnosed by CT scan. Most of the patients are diagnosed by visting a doctor or post operation, when dysfunction deceloped due to the absence of muscles of eye or hands. Cases of the absence of pectoralis major, pectoralis minor and rectus abdominis are rare because these absence doesn＇ t cause dysfuntion. The iconographic reports of congenital absence of muscles are rare.There are limit diagnosed by X-rays , but CT and MRI have high resolution ratio of soft tissues and can be usded to diagnose congenital absence of muscles before operation. Therefore, more attention should be paid on the use of CT and MRI in daily work.