Twig-like middle cerebral artery in a case of neurofibromatosis type 1
Keywords:
twig-like anomaly, TOF-MRA, neurofibromatosis type 1Abstract
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.
References
Borofsky S, Levy LM. Neurofibromatosis: Types 1 and 2. (2013) American Journal of Neuroradiology. 34 (12): 2250. doi:10.3174/ajnr.A3534
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.
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.
Hamilton SJ, Friedman JM. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet, 2000, 58(5): 341–344.
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.
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.
Koelfen W, Wentz U, Freund M, Schultze C. Magnetic resonance angiography in 140 neuropediatric patients. Pediatr Neurol 1995;12:31–8.
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.
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.
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.
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.
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Copyright (c) 2022 Grazia Vittoria Orciulo, Daniela Grasso, Carmela Borreggine, Giulia Castorani , Doriana Vergara, Michelangelo Nasuto, Giovanni Ciccarese, Teresa Popolizio, Ettore Serricchio, Giuseppe Guglielmi

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