Çocukluk çağı kas biyopsilerinin retrospektif analizi ve tanıya katkısının değerlendirilmesi

Background: Muscle biopsy is a crucial diagnostic tool used for the diagnosis of neuromuscular diseases. The aim of this study was to present the clinical, laboratory, and muscle biopsy findings of patients undergoing muscle biopsy in a large pediatric series, to determine the clinical contribution of muscle biopsy to the clinic, and to compare biopsy findings with the results of both clinical diagnosis and genetic results. Methods: Muscle biopsies, reported between January 2011 and December 2020 in Hacettepe University Faculty of Medicine, Department of Pediatrics, Pediatric and Perinatal Pathology Unit, were retrospectively analyzed. Both clinical and laboratory findings and demographic information of the patients were obtained from the hospital automation system and biopsy reports. The patients were classified based on their biopsy diagnoses, the diagnostic yield of the biopsy was determined considering the clinical and laboratory findings, and the compatibility of clinical and genetic diagnoses with histopathological diagnoses was identified. Results: The total number of muscle biopsies in the study was 2242, and the median biopsy age was 4.0 years. Complaints started under the age of five in 73.3% of the patients, and the most common complaint was weakness/floppiness. A diagnosis was established in 45.1% of the biopsies. Accordingly, the most common diagnosis was muscular dystrophies (24.6%). This was followed by myopathic changes (7%), metabolic myopathies (6.2%), congenital myopathies (3.7%), neurogenic changes (2.3%), inflammatory myopathies (1.2%), and myofibrillar myopathy (0.1%). Non- specific changes were observed in 25.8% of the biopsies, and 13.2% did not show any pathological findings. In addition, 11.9% of the biopsies did not establish a definitive diagnosis, however, led to a diagnosis, and 4% were evaluated as unrepresentative/insufficient biopsy for diagnosis. In 51.6% of the patients, the clinical and histopathological diagnosis were compatible with each other. In 9.2% of the biopsies, a different diagnosis than the clinical diagnosis was achieved, and no biopsy findings supporting the clinical diagnosis were observed in 39.2%. Conclusion: Muscle biopsy is a crucial diagnostic tool for neuromuscular diseases. Interpreting the biopsy findings together with the clinical, laboratory, and genetic results of the patient increases the diagnostic yield. Keywords: neuromuscular disease, muscle pathology, diagnostic yield, pediatric