Indian Journal of Pathology and Microbiology

ORIGINAL ARTICLE
Year
: 2008  |  Volume : 51  |  Issue : 4  |  Page : 474--480

Congenital myopathies: A clinicopathological study of 25 cases


Deepali Jain1, Mehar C Sharma1, Chitra Sarkar1, Shefali Gulati2, Veena Kalra2, Sumit Singh3, Rohit Bhatia3 
1 Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
3 Department of Neurology, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Mehar C Sharma
Department of Pathology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029
India

Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: 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. Results: 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. Conclusion: 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.


How to cite this article:
Jain D, Sharma MC, Sarkar C, Gulati S, Kalra V, Singh S, Bhatia R. Congenital myopathies: A clinicopathological study of 25 cases.Indian J Pathol Microbiol 2008;51:474-480


How to cite this URL:
Jain D, Sharma MC, Sarkar C, Gulati S, Kalra V, Singh S, Bhatia R. Congenital myopathies: A clinicopathological study of 25 cases. Indian J Pathol Microbiol [serial online] 2008 [cited 2020 Apr 10 ];51:474-480
Available from: http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2008;volume=51;issue=4;spage=474;epage=480;aulast=Jain;type=0