Çocukluk Çağında Kas Biyopsileri – Klinik ve Patolojik Bulguların Retrospektif Değerlendirmesi

Abstract

Background and Objective: Muscle biopsy is an important diagnostic tool in the investigation of children with neuromuscular disorders. The studies consi-dering the clinical and histopathological features of childhood muscle disease are few in the literature. The aim of this study was to examine the clinical and histopathologi-cal profile of childhood muscle biopsies evaluated at our pathology unit and investi-gate the correlation between clinical and histopathological diagnoses. Methods: This is a retrospective, single center study including muscle bi-opsies which were evaluated within 10 years, from 2003 to 2012, at the Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital Pediatric Pat-hology Unit. We reviewed the demografic, clinical, laboratory and histological data of muscle biopsies of the patients, using the information from the biopsy reports ob-tained from our pathology unit database. Results: 3417 muscle biopsy were evaluated in our study. There were 1246 (36,5%) female and 2171 (63,5%) males, the overall male/female ratio was 1,74:1. The mean age of the patients was 5,3 years (2 days – 18 years). Consanguinity rate was 62,2% and 57,2% had a positive family history. Muscular dystrophies (27,9%) were the most frequent histopathological diagnosis, followed by myopathies (8,1%), mitochondrial diseases (3,2%), metabolic myopathies (2,8%), Spinal muscular at-rophy (SMA) – denervation (2,5%), congenital myopathies (1,8%) and inflammatory myopathies (0,7%), respectively. 21,4% of our cases had normal muscle biopsy fin-dings and 14,9% had non-spesific histopathological changes. Clinical diagnosis was compatible with histopathological diagnosis in 1386 (40,6%) patients. Conclusions: The diagnostic value of muscle biopsy remains significant when re-evaluated in the light of new developments.