Jain Deepali, Sharma Mehar C, Sarkar Chitra, Gulati Shefali, Kalra Veena, Singh Sumit, Bhatia Rohit
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Indian J Pathol Microbiol. 2008 Oct-Dec;51(4):474-80. doi: 10.4103/0377-4929.43734.
Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases.
The clinical data of patients who were diagnosed with congenital myopathy between 2001 and 2006 was retrieved. Muscle biopsies were processed for H&E staining, enzyme histochemistry, and immunohistochemistry. Biopsies were also processed for ultrastructural analysis.
During a period of 6 years, 1.12% of the muscle biopsies were diagnosed as congenital myopathies. The most common congenital myopathy was central core disease followed by nemaline rod myopathy and multi-mini core disease. Clinically, they have variable features. The final diagnosis was made with the help of enzyme histochemistry and ultrastructural features.
This study emphasizes the importance of enzyme histochemistry and electron microscopic examination in the diagnosis of congenital myopathies especially in the absence of genetic studies.
先天性肌病较为罕见。通过本文，作者希望呈现对25例新病例的临床病理分析。
检索2001年至2006年间被诊断为先天性肌病患者的临床资料。对肌肉活检组织进行苏木精-伊红染色、酶组织化学和免疫组织化学处理。活检组织也进行超微结构分析。
在6年期间，1.12%的肌肉活检被诊断为先天性肌病。最常见的先天性肌病是中央核病，其次是杆状体肌病和多微小核病。临床上，它们具有不同的特征。最终诊断借助酶组织化学和超微结构特征得以做出。
本研究强调了酶组织化学和电子显微镜检查在先天性肌病诊断中的重要性，尤其是在缺乏基因研究的情况下。
