Diagnostic advantage of needle muscle biopsy and ultrasound imaging in the detection of focal pathology in a girl with limb girdle dystrophy.

Ultrasound imaging of the thigh in a 6-year-old girl with limb girdle muscular dystrophy showed striking focal involvement of the vastus intermedius and vastus lateralis muscles, with sparing and hypertrophy of the rectus femoris muscle. This was confirmed on needle muscle biopsy, using the Bergstrom needle, which showed normal histology in the rectus femoris and severe dystrophic change in the vastus intermedius. In neuromuscular disease, it is important to be aware of the possibility of focal muscle involvement, which can be screened for by ultrasound imaging and more effectively investigated by needle than by open muscle biopsy.