von Rohden L, Jürgens Julian H W
, Jägerstieg 5, 39291, Lostau/Magdeburg, Deutschland.
Klinik und Poliklinik für Diagnostische und Interventionelle Radiologie und Nuklearmedizin; Abteilung pädiatrische Radiologie, Universitätsklinikum Hamburg Eppendorf, Martinistraße 52, 20246, Hamburg, Deutschland.
Radiologe. 2017 Dec;57(12):1029-1037. doi: 10.1007/s00117-017-0318-8.
The increasing number of treatable hereditary neuromuscular diseases in children requires a diagnostic tool that can quickly, safely, and noninvasively identify affected patients directly after birth or when showing initial clinical symptoms. With clinical analysis alone, this is very difficult.
Near-field sonography of skeletal muscles has gradually become established as a successful method over the last 35 years.
Examination is performed using a strictly standardized protocol in isotopic muscle regions and with standardized sections and application parameters. Interpretation is performed with specific assessment criteria and nomenclature for the description of normal and pathological muscle architecture and echogenicity. This is sonographic tissue characterization.
Using case studies, the sonoanatomy and sonopathology of selected myo- and neuropathies, metabolic, inflammatory, and other lesions are illustrated. We present their differential diagnosis by texture and echogenicity analysis. Affected persons are identified in 70% up to 100% of cases, depending on the entity; specificity is less dependent on experience and training. Of the 12 disorders presented in this article, 6 are causally/symptomatically treatable today.
Standardized myosonography is the imaging modality of first choice for detection of neuromuscular diseases.
High frequency (8-22 MHz) linear array transducer. Highly standardized examination modality. Simultaneous, paired comparison of affected persons and controls. If necessary, muscle tissue biopsy only after ultrasonic determination of a suitable area.
儿童中可治疗的遗传性神经肌肉疾病数量不断增加，这需要一种诊断工具，能够在出生后或出现初始临床症状时快速、安全且无创地直接识别受影响的患者。仅靠临床分析很难做到这一点。
在过去35年中，骨骼肌近场超声检查已逐渐成为一种成功的方法。
使用严格标准化的方案在同位素肌肉区域进行检查，并采用标准化的切片和应用参数。通过特定的评估标准和术语进行解读，以描述正常和病理肌肉结构及回声性。这就是超声组织特征分析。
通过病例研究，展示了选定的肌病和神经病、代谢性、炎症性及其他病变的超声解剖和超声病理。我们通过纹理和回声性分析呈现它们的鉴别诊断。根据疾病类型，在70%至100%的病例中可识别出受影响的人；特异性较少依赖经验和培训。本文介绍的12种疾病中，有6种目前在病因上/症状上是可治疗的。
标准化肌超声检查是检测神经肌肉疾病的首选成像方式。
高频（8 - 22兆赫）线性阵列换能器。高度标准化的检查方式。对受影响者和对照进行同时、配对比较。如有必要，仅在超声确定合适区域后进行肌肉组织活检。
