Imaging Review of Neurofibromatosis: Helpful Aspects for Early Detection

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.