Unilateral absence of sphenoid wing in a Neurofibromatosis type 1 patient: imaging findings

Abstract

Neurofibromatosis type 1(NF-1) or von Recklinghausen disease is the most common of the neurocutaneous syndromes. It is characterized by pigmented cutaneous lesions and tumors of central nervous system. By the way, it could affect all the systems of the body. Sphenoid wing abnormalities are very rare and often associated with NF-1 so, they are considered pathognomonic. We report an unusual case NF-1 with unilateral absence of sphenoid wing and findings of multi-detector computed tomography and magnetic resonance imaging. J Clin Exp Invest 2013; 4 (3): 364-366

Keywords

• Neurofibromatosis type 1, multi-detector computed tomography, magnetic resonance imaging, sphenoid dysplasia.

Neurofibromatozis tip 1’li hastada sfenoid kanadın tek taraflı yokluğu: görüntüleme bulguları

Abstract

Nörofibromatozis tip 1 (NF-1) diğer adıyla von Recklinghausen hastalığı nörokutanöz sendromların en sık görülenidir. Pigmente cilt lezyonları ve santral sinir sistemi tümörleri ile karakterizedir. Buna ek olarak tüm sistemleri etkileyebilmektedir. Sfenoid kanat anomalileri nadir görülür ve genellikle NF-1 ile ilişkilidir. Bu nedenle genellikle patognomonik kabul edilir. Bu yazıda sfenoid kanat yokluğuyla karakterize nadir bir NF-1 olgusunu, çok kesitli bilgisayarlı tomografi ve manyetik rezonans görüntüleme bulgularıyla beraber sunduk.

Keywords

• Nörofibromatozis tip 1, çok kesitli bilgisayarlı tomografi, manyetik rezonans görüntüleme, sfenoid displazi

References

1. Jacquemin C, Bosley TM, Liu D, et al. Reassessment of sphenoid dysplasia associated with neurofibroma- tosis type 1. Am J Neuroradiol 2002;23:644-648.
2. Fortman BJ, Kuszyk BS, Urban BA, et al. Neurofibro- matosis Type 1: A Diagnostic mimicker at CT. Radio graphics 2001;21:601-612.
3. Williams M, Verity CM. Optic nerve gliomas in children with neurofibromatosis. Lancet 1987;1:1318-1319.
4. Alwan S, Tredwell SJ, Friedman JM. Is osseous dyspla- sia a primary feature of neurofibromatosis 1 (NF1)? Clin Genet. 2005;67:378-390.
5. Duong TA, Sbidian E, Valeyrie-Allanore L, et al. Mortali- ty associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis. 2011;6:18-26.
6. Onbas O, Aliagaoglu C, Calikoglu C, et al. Absence of a Sphenoid wing in Neurofibromatosis Type 1 Disease: Imaging with multidetector computed tomography. Ko- rean J Radiol 2006;7:70-72.
7. Jacquemin C, Bosley TM, Liu D, et al. Reassessment of sphenoid dysplasia associated with neurofibroma- tosis type 1. Am J Neuroradiol 2002;23:644-648.
8. Harkens K, Dolan K. Correlative imaging of sphenoid dysplasia accompanying neurofibromatosis. Ann Otol Rhinol Laryngol 1990;99:137-141.

9. Van Es S, North KN, McHugh K, et al. MRI findings in children with neurofibromatosis type 1: a prospective study. Pediatr Radiol 1996;26:478–487.
10. Prokop M. Multislice CT: technical principles and fu- ture trends. Eur Radiol 2003;5:3-13.