Journal of Oral and Maxillofacial Radiology

CASE REPORT
Year
: 2018  |  Volume : 6  |  Issue : 2  |  Page : 36--41

Use of advanced imaging in diagnosis of neurofibromatosis 1


Eiti Singh1, Khushboo Singh1, Sunita Gupta1, Mayank Shailat2 
1 Department of Oral Medicine and Radiology, Maulana Azad Institute of Dental Sciences, New Delhi, India
2 Department of Conservative Dentistry and Endodontics, Government Dental College, Bengaluru, Karnataka, India

Correspondence Address:
Eiti Singh
Department of Oral Medicine and Radiology, Maulana Azad Institute of Dental Sciences, New Delhi - 110 002
India

Neurofibromatosis (NF) is a Mendelian disorder which is carried as an autosomal dominant trait. Two genetically distinct subtypes have been recognized, NF type 1 (NF1) and NF2. NF1 patients present with cutaneous, ocular, musculoskeletal, cardiovascular, gastrointestinal, neurologic, and dental findings but chiefly characterized by neurofibromas of central and peripheral nervous systems. Approximately 75%–80% of NF1 patients present with oral and radiographic manifestations, while 80% present with facial plexiform neurofibroma. This article aims to present a case report of NF1 diagnosed with the help of higher imaging. NF1 in a pediatric patient was diagnosed with classic findings of plexiform neurofibroma and sphenoid dysplasia diagnosed on cone-beam computed tomography (CT) and contrast-enhanced CT. Development of malignancies such as malignant peripheral nerve sheath tumors, optic gliomas, and leukemias is a major risk factor of NF1. Therefore, the use of imaging for early diagnosis of NF1 is critical.


How to cite this article:
Singh E, Singh K, Gupta S, Shailat M. Use of advanced imaging in diagnosis of neurofibromatosis 1.J Oral Maxillofac Radiol 2018;6:36-41


How to cite this URL:
Singh E, Singh K, Gupta S, Shailat M. Use of advanced imaging in diagnosis of neurofibromatosis 1. J Oral Maxillofac Radiol [serial online] 2018 [cited 2019 Mar 19 ];6:36-41
Available from: http://www.joomr.org/article.asp?issn=2321-3841;year=2018;volume=6;issue=2;spage=36;epage=41;aulast=Singh;type=0