Congenital myopathies: a clinicopathological study of 25 cases

Indian J Pathol Microbiol. 2008 Oct-Dec;51(4):474-80. doi: 10.4103/0377-4929.43734.

Abstract

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.

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Child
  • Child, Preschool
  • Enzymes / metabolism
  • Eosine Yellowish-(YS)
  • Female
  • Hemolytic Agents
  • Histocytochemistry
  • Humans
  • Immunohistochemistry
  • India
  • Infant
  • Infant, Newborn
  • Male
  • Microscopy, Electron
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / ultrastructure
  • Muscular Diseases* / classification
  • Muscular Diseases* / congenital
  • Muscular Diseases* / pathology
  • Muscular Diseases* / physiopathology
  • Myopathies, Nemaline / pathology
  • Young Adult

Substances

  • Enzymes
  • Hemolytic Agents
  • Eosine Yellowish-(YS)