Background Muscle and skin biopsies are commonly used diagnostic procedures in the evaluation of pediatric neuromuscular and genetic disorders. However, few modern reports have documented their diagnostic yield and clinical utility. We reviewed our experience at a tertiary care center. Methods We retrospectively studied consecutive pediatric patients who underwent muscle biopsy at our institution between January 2008 and April 2012. Results Of 169 patients, 97 (57%) were male, and the median (range) age was 7 years (9 days to 18 years). In 101 patients (60%), a pathologic diagnosis was made. Histologic results of biopsy were completely normal in 45 patients (27%). Minimal abnormalities not sufficient to make a definitive pathologic diagnosis were reported in 23 patients (14%). Sensitivity and specificity of preoperative electromyography in detecting muscle pathology were 58% and 56%, respectively. No complications occurred from the use of general anesthesia. The only complication was a right femoral vein laceration when the right vastus medialis muscle was chosen as a biopsy site. Conclusion Muscle biopsy in children is safe and useful in establishing the best management plan for patients with suspected neuromuscular disorders. This finding contradicts those of previous studies.
- Muscle biopsy
- Skin biopsy
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health