American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2018, 6(3), 43-46
DOI: 10.12691/ajmcr-6-3-1
Open AccessArticle

Magnetic Resonance Imaging Evaluation of Neurofibromatosis 1 and 2 Manifestations in Iranian Population

Zahra Janamiri1, , Vahid Shahmaei1 and Fariborz Faeghi1

1Department of Radiology Technology, Shohada Tajrish Hospital, School of Allied Medicl Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Pub. Date: April 16, 2018

Cite this paper:
Zahra Janamiri, Vahid Shahmaei and Fariborz Faeghi. Magnetic Resonance Imaging Evaluation of Neurofibromatosis 1 and 2 Manifestations in Iranian Population. American Journal of Medical Case Reports. 2018; 6(3):43-46. doi: 10.12691/ajmcr-6-3-1


Introduction: Neurofibromatosis type 1 (NF1) or von Recklinghausen’s disease, is a rare multi-system genetic disorder caused by the mutation of a gene on chromosome 17 which is responsible for synthesis of a protein called neurofibromin and it can cause various neoplasms. Also, Neurofibromatosis type 2 (NF2) is a genetic disorder caused by mutation of Merlin gene, responsible for production of neurofibromin 2 or schwannomin, a cyto-skletal protein. In this study, authors plan to investigate the distribution of these neoplasms and their features on Magnetic Resonance Imaging (MRI). Materials and Methods: From July 2013 to October 2017, we have prospectively enrolled 36 patients with confirmed diagnosis of either NF1 or NF2 based on clinical criteria and post-operative histological examination, to our study and we have performed target-focused imaging, targeting mostly intracranial cavity and spine, and other organs based on patients symptoms to assess the prevalence of neoplasms associated with NF1 and NF2. Also, we have performed specific tests to determine and follow-up the complications of NF1 and NF2, being Electromyography (EMG) and Nerve Conduction Velocity (NCV) for possible spinal cord lesion evaluation and perimetry for evaluation of optic nerve and chiasma lesions in NF1, and audiometry for evaluation of acoustic neuroma and hearing disability in NF2 patients. Results: There were 36 patients, being 20 females and 16 males within 14-40 years old range. NF1 patients comprise 22 cases, being 12 females and 10 males with mean age of 25.7 years and NF2 patients comprise 14 cases, being 9 females and 5 males with mean age of 23.8 years. Perimetry showed affected visual field in 10 patients and neurological examination and EMG-NCV study revealed paresthesia and weakness in upper extremities in 6 patients. Also, audiometry revealed affected hearing pattern in 13 patients. MRI study in NF1 cases revealed Unidentified Bright Objects (UBO) in 15 cases, followed by optic nerve and optic chiasma glioma in 12 cases, spinal cord lesion being as cervical spinal neurofibromas in 6 patients and deep visceral and abdominal plexiform neurofibromas in 4 patients. Moreover, MRI examination in NF2 patients showed bilateral acoustic neuromas in all 14 cases, meningiomas in 9 cases and epenymoma in 2 patients. Also, histopathological examination of removed tissues in surgical candidates or patients with intermediate certainty of diagnosis, confirmed either neurofibromatosis. Conclusion: Although being rare, neurofibromatosis, whether type 1 or type 2, may cause devastating complications and sequel to the affected patients and in some instances; they may manifest themselves as uncommon lesions in neuro-imaging without other visible criteria for the disease. In this study, authors have investigated the possible lesions in association with NF1 and NF2, and incidental finings of these lesions in neuro-imaging or visceral imaging should prompt the suspicion for underlying phakomatosis such as neurofibromatosis.

neurofibromatosis magnetic resonance imaging optic nerve Glioma Plexiform Neurofibroma acoustic Neuroma

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[1]  Dugoff, L., Sujansky, E., “Neurofibromatosis type 1 and pregnancy,” American Journal of Medical Genetics Part A, 66(1). 7-10. 1996.
[2]  Rodriguez, F.J., Perry, A., Gutmann, D.H., O'neill, B.P., Leonard, J., Bryant, S., Giannini, C., “Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients,” Journal of Neuropathology & Experimental Neurology, 67(3). 240-9. 2008.
[3]  Stevenson, D.A., Schwarz, E.L., Viskochil, D.H., Moyer-Mileur, L.J., Murray, M., Firth, S.D., D'astous, J.L., Carey, J.C., Pasquali, M., “Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis,” Pediatric research, 63(6). 697. 2008.
[4]  Evans, D.G., “Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II],” Genetics in medicine, 11(9). 599. 2009.
[5]  Harris, G.J., Plotkin, S.R., MacCollin, M., Bhat, S., Urban, T., Lev, M.H., Slattery, W.H., “Three-dimensional volumetrics for tracking vestibular schwannoma growth in neurofibromatosis type II,” Neurosurgery, 62(6). 1314-20. 2008.
[6]  Aboukais, R., Baroncini, M., Zairi, F., Bonne, N.X., Schapira, S., Vincent, C., Lejeune, J.P., “Prognostic value and management of spinal tumors in neurofibromatosis type 2 patients,” Acta neurochirurgica, 155(5). 771-7. 2013.
[7]  Diggs‐Andrews, K.A., Brown, J.A., Gianino, S.M., Rubin, J.B., Wozniak, D.F., Gutmann, D.H., “Sex is a major determinant of neuronal dysfunction in neurofibromatosis type 1,” Annals of neurology, 75(2). 309-16. 2014.
[8]  Aylsworth, A., Carey, J.C., Korf, B., Marks, J., Pyeritz, R.E., Rubenstein, A., Viskochil, D., Gutmann, D.H., “The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2,” American Journal of Ophthalmology, 124(5). 718-9. 1997.
[9]  Ferrari, A., Bisogno, G., Macaluso, A., Casanova, M., D'angelo, P., Pierani, P., Zanetti, I., Alaggio, R., Cecchetto, G., Carli, M., “Soft‐tissue sarcomas in children and adolescents with neurofibromatosis type 1,” Cancer, 109(7). 1406-12. 2007.
[10]  Listernick, R., Ferner, R.E., Liu, G.T., Gutmann, D.H., “Optic pathway gliomas in neurofibromatosis‐1: controversies and recommendations,” Annals of neurology, 61(3). 189-98. 2007.
[11]  Yamamoto, H., Tobo, T., Nakamori, M., Imamura, M., Kojima, A., Oda, Y., Nakamura, N., Takahira, T., Yao, T., Tsuneyoshi, M., “Neurofibromatosis type 1-related gastrointestinal stromal tumors: a special reference to loss of heterozygosity at 14q and 22q,” Journal of cancer research and clinical oncology, 135(6). 791-8. 2009.
[12]  Seddighi, A.S., Seddighi, A., Behrouzian, S., Nikouei, A., “Simultaneous Presentation of Cerebellopontine Angle Pleomorphic Xanthoastrocytoma and Malignant Melanoma in a Known Case of Neurofibromatosis 1; Probable Role of BRAF Gene: A Case Report and Review of Literature,” International Journal of Cancer Management, 10(7). 2017.
[13]  Garg, S., Green, J., Leadbitter, K., Emsley, R., Lehtonen, A., Evans, D.G., Huson, S.M., “Neurofibromatosis type 1 and autism spectrum disorder,” Pediatrics, 132(6). e1642-8. 2013.
[14]  Seitz, S., Schnabel, C., Busse, B., Schmidt, H.U., Beil, F.T., Friedrich, R.E., Schinke, T., Mautner, V.F., Amling, M., “High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1,” Osteoporosis international, 21(1). 119-27. 2010.
[15]  Kumar, K.H., Shaikh, A., Sandhu, A.S., Prusty, P., “Neurofibromatosis 1 with pheochromocytoma,” Indian journal of endocrinology and metabolism, 15(Suppl4). S406. 2011.
[16]  Boyd, K.P., Korf, B.R., Theos, A., “Neurofibromatosis type 1,” Journal of the American Academy of Dermatology, 61(1). 1-4. 2009.
[17]  Denckla, M.B., Hofman, K., Mazzocco, M.M., Melhem, E., Reiss, A.L., Bryan, R.N., Harris, E.L., Lee, J., Cox, C.S., Schuerholz, L.J., “Relationship between T2‐weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis‐1,” American Journal of Medical Genetics Part A, 67(1). 98-102. 1996.
[18]  Seddighi, A., Nikouei, A., Seddighi, A.S., Zali, A.R., Tabatabaei, S.M., Sheykhi, A.R., Yourdkhani, F., Naeimian, S., “Peripheral nerve injury: a review article,” International Clinical Neuroscience Journal, 3(1). 1-6. 2016.
[19]  Matsuo, M., Ohno, K., Ohtsuka, F., “Characterization of early onset neurofibromatosis type 2,” Brain and Development, 36(2). 148-52. 2014.
[20]  Ruggieri, M., Gabriele, A.L., Polizzi, A., Salpietro, V., Nicita, F., Pavone, P., Platania, N., Milone, P., Distefano, A., Privitera, G., Belfiore, G., “Natural history of neurofibromatosis type 2 with onset before the age of 1 year,” Neurogenetics, 14(2). 89-98. 2013.