Hekmatnia A, Ghazavi A, Marashi Shooshtari M J, Hekmatnia F, Basiratnia R
Associated Professor, Departmentof Radiology-Image Processing and Signal Research Center, Isfahan, Iran.
Iran J Radiol. 2011 Sep;8(2):63-74. Epub 2011 Sep 25.
Neurofibromatosis (NF) is divided into two types, NF type 1 and NF type 2. Optic nerve gliomas have a high degree of association with NF type 1. NF 2, less commonly seen, is a complex of cutaneous and deep neural tumors. It is an autosomal dominant familial disorder in which CNS is affected in about 15% of the cases. Bilateral acoustic neuromas are pathognomonic of NF type 2 which may be associated with meningiomas or ependymomas. Typical clinical manifestations of neurofibromatosis are cafe-au-lait spots and multiple cutaneous tumors. There is bone involvement as scoliosis, pseudoarthrosis of long bones, scalloping of vertebral bodies, abnormal rib tubulation and defective ossification of the skull. Extraskeletal manifestations of neurofibromatosis include optic nerve gliomas, pheochromocytoma, aneurysms of cerebral and renal arteries, acoustic neurilemmoma and superficial skin nodular neurofibromas.Here, we intend to present images of several cases of neurofibromatosis with different patterns of body involvement.
神经纤维瘤病(NF)分为两种类型,即1型神经纤维瘤病(NF1)和2型神经纤维瘤病(NF2)。视神经胶质瘤与NF1高度相关。NF2较少见,是一种皮肤和深部神经肿瘤的综合征。它是一种常染色体显性遗传性家族性疾病,约15%的病例会累及中枢神经系统。双侧听神经瘤是NF2的特征性表现,可能与脑膜瘤或室管膜瘤有关。神经纤维瘤病的典型临床表现为牛奶咖啡斑和多发性皮肤肿瘤。还存在骨骼受累情况,如脊柱侧凸、长骨假关节、椎体扇贝样改变、肋骨管状结构异常以及颅骨骨化缺陷。神经纤维瘤病的骨骼外表现包括视神经胶质瘤、嗜铬细胞瘤、脑动脉和肾动脉动脉瘤、听神经鞘瘤以及浅表皮肤结节性神经纤维瘤。在此,我们打算展示几例不同身体受累模式的神经纤维瘤病病例图像。