Winter Natalie, Rattay Tim W, Axer Hubertus, Schäffer Eva, Décard Bernhard F, Gugel Isabel, Schuhmann Martin, Grimm Alexander
Center of Neurology, Tübingen University Hospital and Hertie Institute for Clinical Brain Research, Eberhard-Karl University Tübingen, Tübingen, Germany.
Center of Neurology, Tübingen University Hospital and Hertie Institute for Clinical Brain Research, Eberhard-Karl University Tübingen, Tübingen, Germany; German Research Center for Neurodegenerative Diseases, (DZNE), Tübingen, Germany.
Clin Neurophysiol. 2017 May;128(5):702-706. doi: 10.1016/j.clinph.2017.02.005. Epub 2017 Feb 20.
The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2.
Patients with established diagnosis of NF1 (n=27) and NF2 (n=10) were included. Ultrasound of peripheral nerves and cervical roots was performed during routine follow-up visits. Healthy volunteers were studied for comparison.
In patients with NF1, median cross-sectional area (CSA) of most nerves was significantly increased compared to controls and to NF2 due to generalized plexiform tumors, which arose out of multiple fascicles in 23 of 27 patients (85%). These were often accompanied by cutaneous or subcutaneous neurofibromas. In NF2, the overall aspect of peripheral nerves consisted of localized schwannomas (80%) and, apart from that, normal nerve segments.
Nerve ultrasound is able to visualize different nerve pathologies in NF1 and NF2. It is a precise and inexpensive screening method for peripheral nerve manifestation in neurofibromatosis and should be considered as the first choice screening imaging modality for all peripheral nerves within reach of non-invasive ultrasound techniques.
Ultrasound patterns of peripheral nerve pathologies are described for the first time in a large cohort of patients with NF1 and NF2. It is a suitable screening tool and enables targeted MRI analysis.
1型和2型神经纤维瘤病（NF）是由NF1和NF2肿瘤抑制基因的种系突变引起的遗传性肿瘤易感性综合征。在NF1和NF2中，周围神经肿瘤经常发生。为了进一步进行特征描述，对NF1和NF2患者进行了神经超声检查。
纳入确诊为NF1（n = 27）和NF2（n = 10）的患者。在常规随访期间对周围神经和颈神经根进行超声检查。研究健康志愿者作为对照。
在NF1患者中，由于广泛性丛状肿瘤，大多数神经的中位横截面积（CSA）与对照组和NF2相比显著增加，27例患者中有23例（85%）的丛状肿瘤起源于多个束。这些肿瘤常伴有皮肤或皮下神经纤维瘤。在NF2中，周围神经的总体表现为局限性神经鞘瘤（80%），除此之外还有正常神经节段。
神经超声能够显示NF1和NF2中不同的神经病变。它是一种精确且廉价的用于神经纤维瘤病周围神经表现的筛查方法，应被视为非侵入性超声技术可及范围内所有周围神经的首选筛查成像方式。
首次在一大群NF1和NF2患者中描述了周围神经病变的超声模式。它是一种合适的筛查工具，能够进行有针对性的MRI分析。
