[1型神经纤维瘤病(von Recklinghausen病)和结节性硬化症(Bourneville病)的肌肉骨骼表现]。

4区医学 Q3 Medicine Radiologe Pub Date : 2021-12-01 Epub Date: 2021-07-26 DOI:10.1007/s00117-021-00892-6

Markus Uhl

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引用次数: 1

摘要

临床问题:1型神经纤维瘤病(NF1)和结节性硬化症(TS)是最常见的遗传性疾病。骨和软组织表现是常见的疾病表现。标准放射学程序和评价:标准放射学程序是磁共振成像(MRI)。所有宏观疾病表现均可在病程中影像学诊断和观察。特殊的并发症，如丛状神经纤维瘤和恶性周围神经鞘肿瘤(MPNST)在NF1中很容易在MRI上看到。丛状神经纤维瘤和MPNST的鉴别不确定，需要随访。实践建议:MRI是研究NF1和TS的软组织和骨骼表现最重要的手段。

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[Musculoskeletal manifestations of neurofibromatosis type 1 (von Recklinghausen's disease) and tuberous sclerosis (Bourneville's disease)].

Clinical problem: Neurofibromatosis type 1 (NF1) and tuberous sclerosis (TS) are among the most common genetic diseases. Bone and soft tissue manifestations are common disease manifestations.

Standard radiological procedure and evaluation: The standard radiological procedure is magnetic resonance imaging (MRI). All macroscopic disease manifestations can be diagnosed radiologically and observed during the course. Specific complications such as plexiform neurofibromas and malignant peripheral nerve sheath tumors (MPNST) in NF1 are readily visible on MRI. Differentiation of plexiform neurofibromas and MPNST is uncertain and requires follow-up.

Recommendation for practice: MRI is the most important procedure for the investigation of soft tissue and bone manifestations of NF1 and TS.

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来源期刊

Radiologe 医学-核医学

CiteScore

1.10

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Der Radiologe is an internationally recognized journal dealing with all aspects of radiology and serving the continuing medical education of radiologists in clinical and practical environments. The focus is on x-ray diagnostics, angiography computer tomography, interventional radiology, magnet resonance tomography, digital picture processing, radio oncology and nuclear medicine. Comprehensive reviews on a specific topical issue focus on providing evidenced based information on diagnostics and therapy. Freely submitted original papers allow the presentation of important clinical studies and serve the scientific exchange. Review articles under the rubric ''Continuing Medical Education'' present verified results of scientific research and their integration into daily practice.