[神经纤维瘤病]
[Neurofibromatoses].
作者信息
Zimmer A
机构信息
Klinik für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66421, Homburg/Saar, Deutschland,
出版信息
Radiologe. 2013 Dec;53(12):1077-83. doi: 10.1007/s00117-013-2555-9.
Neurofibromatosis type 1 (NF1) and type 2 (NF2) are hereditary autosomal dominant neurocutaneous disorders, the phacomatoses, characterized by the development of tumors derived from the cells of the peripheral nerve sheath and also includes schwannomatosis. Regarding the clinical and genetic aspects they are, however, two distinct entities which are described separately in the following review. In addition to the typical clinical presentation and diagnostic criteria, characteristic imaging findings are presented especially in terms of the role of imaging in the diagnosis, follow-up and assessment of prognostic aspects in these multisystemic disorders.
1型神经纤维瘤病(NF1)和2型神经纤维瘤病(NF2)是遗传性常染色体显性神经皮肤疾病,即错构瘤病,其特征是由周围神经鞘细胞产生肿瘤,也包括神经鞘瘤病。然而,就临床和遗传学方面而言,它们是两个不同的实体,在以下综述中将分别进行描述。除了典型的临床表现和诊断标准外,还将介绍特征性的影像学表现,特别是在这些多系统疾病的诊断、随访和预后评估方面影像学的作用。