Abstract

INTRODUCTION

Most of the neuromuscular diseases are genetic and progressive so it is important to make a timely and correct diagnosis in terms of treatment guide, follow-up of the progression and genetic counseling to be given to the family. The aim of this study is to analyze the histopathological evaluation process and results of muscle biopsies and to evaluate the contribution to the diagnosis and management decisions of the disease.

METHODS

We retrospectively reviewed the results of muscle biopsy of 160 patients between 2013 and 2017. The clinical findings, biopsy specimen adequacy, clinical preliminary diagnosis and pathology results are reviewed.

RESULTS

The pediatric cases comprise 53.8% of the total cases and 60% of the cases were male patients. 42.6% of the patients reported muscle weakness. Clinical preliminary diagnosis for muscle biopsy was myopathy/dystrophy with 60.1% at the first order. Histologic interpretation revealed 71.2% myopathy/dystrophic changes, 9.4% neuropathıc changes. In 40% of total cases, the enzyme and immunohistochemically staining could be used for further diagnose or to exclude some diseases and allow molecular studies to be planned.

DISCUSSION AND CONCLUSION

Muscle biopsy is indispensable for creating an etiologic diagnosis. Histopathological examination in the investigation of neuromuscular diseases; is an important component of the prognostic prediction and therapeutic planning as well as diagnostic data. The efficiency of the histopathological study is directly proportional to the quality of the biopsy specimen, and clinic pathologic communication during these procedures is important. Pathologist’s proactive role in the pre analytical process is important in terms of patient safety and timely, accurate results.