先天性肌病包括多种疾病，如中央轴空病、线状体肌病、肌小管肌病、先天性纤维类型比例失调症、多轴空病、还原体肌病、球状体肌病等，其共同特点是：①出生时已有病理变化。②肌病非进行性。③形态学角度提示是肌病。约半数有遗传因素。临床甚难鉴别，都有婴儿低肌张力综合征，或稍后出现肌力减退，限于近端或远端，或遍及全身。只有肌活检，有时需有组织化学技术或电镜进行全面分析，才能明确诊断。
目的探讨不同类型的先天性肌病的超微结构变化规律。
Objective To investigate the ultrastructural changes of 4 different types of congenital myopathies.
结论：先天性胃壁肌层缺损并胃穿孔有特征性的X线表现，早期诊断及时手术对本病的预后非常重要。
Conclusion: The congenital defect of gastric parietal muscularis with gastric perforation has characteristic X-ray manifestations, early diagnosis and surgical are very important for this disease.
结论儿童心室肌致密化不全是一种少见的先天性心肌病，易合并其他心脏畸形。
Conclusion Noncompaction of the ventricular myocardium in children is a rare congenital cardiomyopathy and often coexists with intracardic abnormalities.
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