Twig-like middle cerebral artery in a case of neurofibromatosis type 1
Main Article Content
Keywords
twig-like anomaly, TOF-MRA, neurofibromatosis type 1
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with multisystemic involvement, affecting central nervous system, skin, bone system and vessels, with a very heterogeneous clinical presentation. Vascular abnormalities are typically recognized in neurofibromatosis type 1 affecting cardiovascular and cerebrovascular systems.
The incidence of circle of Willis anomalies in children with NF1 is twofold higher than in general population. In this paper, we report of 19-years-old female with NF1 and twig-like middle cerebral artery.
Downloads
References
2. Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5.
3. Oderich GS, Sullivan TM, Bower TC, Gloviczki P, Miller DV, Babovic-Vuksanovic D, et al. Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg. 2007 Sep;46(3):475-484. doi: 10.1016/j.jvs.2007.03.055.
4. Hamilton SJ, Friedman JM. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet, 2000, 58(5): 341–344.
5. Bekiesińska-Figatowska M, Brągoszewska H, Duczkowski M, Romaniuk-Doroszewska A, Szkudlińska-Pawlak S, Duczkowska A, et al. Circle of Willis abnormalities in children with neurofibromatosis type 1. Neurol Neurochir Pol. 2014 Jan-Feb;48(1):15-20. doi: 10.1016/j.pjnns.2013.05.002.
6. Ferraz-Filho JR, José da Rocha A, Muniz MP, Souza AS, Goloni-Bertollo EM, Pavarino-Bertelli EC. Unidentified bright objects in neurofibromatosis type 1: conventional MRI in the follow-up and correlation of microstructural lesions on diffusion tensor images. Eur J Paediatr Neurol. 2012 Jan;16(1):42-7. doi: 10.1016/j.ejpn.2011.10.002.
7. Koelfen W, Wentz U, Freund M, Schultze C. Magnetic resonance angiography in 140 neuropediatric patients. Pediatr Neurol 1995;12:31–8.
8. Uchiyama N. Anomalies of the Middle Cerebral Artery. Neurol Med Chir (Tokyo). 2017 Jun 15;57(6):261-266. doi: 10.2176/nmc.ra.2017-0043.
9. Duat-Rodríguez A, Carceller Lechón F, López Pino MÁ, Rodríguez Fernández C, González-Gutiérrez-Solana L. Neurofibromatosis type 1 associated with moyamoya syndrome in children. Pediatr Neurol. 2014 Jan;50(1):96-8. doi: 10.1016/j.pediatrneurol.2013.04.007.
10. Vargiami E, Sapountzi E, Samakovitis D, Batzios S, Kyriazi M, Anastasiou A, et al. Moyamoya syndrome and neurofibromatosis type 1. Ital J Pediatr. 2014 Jun 21;40:59. doi: 10.1186/1824-7288-40-59.
11. Budişteanu M, Burloiu CM, Papuc SM, Focşa IO, Riga D, Riga S, et al. Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature. Rom J Morphol Embryol. 2019;60(2):713-716.
Article Sidebar
Article Details
How to Cite
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Transfer of Copyright and Permission to Reproduce Parts of Published Papers.
Authors retain the copyright for their published work. No formal permission will be required to reproduce parts (tables or illustrations) of published papers, provided the source is quoted appropriately and reproduction has no commercial intent. Reproductions with commercial intent will require written permission and payment of royalties.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.