[Ultrasound of muscular diseases in children and adolescents]

Area of Science:

• Neurology
• Pediatrics
• Medical Imaging

Background:

• Pediatric hereditary neuromuscular diseases require rapid, noninvasive diagnostic tools for early detection.
• Clinical analysis alone is often insufficient for timely diagnosis in newborns or infants with initial symptoms.
• Near-field sonography of skeletal muscles has emerged as a reliable diagnostic method over the past 35 years.

Purpose of the Study:

• To establish standardized myosonography as the primary imaging modality for detecting neuromuscular diseases in children.
• To illustrate the sonoanatomy and sonopathology of various neuromuscular conditions using case studies.
• To present a differential diagnosis approach based on texture and echogenicity analysis.

Main Methods:

• Utilizing a strictly standardized protocol for skeletal muscle sonography, including specific examination parameters and interpretation criteria.
• Employing sonographic tissue characterization to analyze muscle architecture and echogenicity.
• Conducting simultaneous, paired comparisons of affected individuals and controls.

Main Results:

• Standardized myosonography demonstrated high accuracy in identifying affected individuals, with detection rates ranging from 70% to 100% depending on the specific disease entity.
• Specificity of the method is relatively independent of the examiner's experience.
• Six out of the 12 presented neuromuscular disorders are currently treatable, highlighting the clinical impact of early diagnosis.

Conclusions:

• Standardized myosonography is the imaging modality of choice for the detection of neuromuscular diseases.
• Recommendations include using high-frequency linear array transducers (8-22 MHz) and a highly standardized examination protocol.
• Muscle biopsy should be considered only after ultrasonic determination of a suitable area for sampling.