Imaging Review of Neurofibromatosis: Helpful Aspects for Early Detection


A Hekmatnia 1 , Amirhossein Ghazavi 2 , * , M J Marashi Shooshtari 3 , F Hekmatnia 4 , R Basiratnia 5

1 Associated Professor, Department of Radiology-Image Processing and Signal Research Center, Department of Radiology, Isfahan, Iran

2 Resident of Radiology, Isfahan, Iran

3 Assistant Professor, Department of Radiology, Isfahan University of Medical Sciences, Isfahan, Iran

4 Medical Student, University of London, London, UK

5 Isfahan, Iran

How to Cite: Hekmatnia A, Ghazavi A, Marashi Shooshtari M J, Hekmatnia F, Basiratnia R. Imaging Review of Neurofibromatosis: Helpful Aspects for Early Detection, Iran J Radiol. 2011 ; 8(2):e93671.


Iranian Journal of Radiology: 8 (2); e93671
Published Online: June 30, 2011
Article Type: Case Report
Received: May 14, 2019
Accepted: June 30, 2011


Neurofibromatosis (NF) is divided into two types, NF type 1 and NF type 2. NF 2 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. Optic nerve gliomas have a high degree of association with NF type 1. NF type 2 is much less commonly seen. It is inherited as an autosomal dominant condition. 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 aspects of body involvement. 


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