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• W2078697981 abstract "Type 1 neurofibromatosis is the most common neurocutaneous syndrome. Most published case series study the paediatric population. Cross-sectional study of cases of type 1 neurofibromatosis from neurology departments that were recorded in a database. We analysed the different clinical variables providing the diagnosis as well as demographic and neuroradiological variables. We found a total of 31 patients with type 1 neurofibromatosis. The mean age was 28.9 years and 58.4% were women. Subjects with unidentified bright objects (UBOs) were younger than those without them (22.45 ± 8.22 years vs. 32.5 ± 10.64; P = .011). In contrast, subjects with neurofibromas were older than those without them (30.56 ± 10.68 years vs. 18.25 ± 4.34; P = .032). No sex differences were found in the presentation of clinical or radiological variables. Seven patients (22.6%) had tumours; 3 were optic pathway gliomas (1 bilateral), 3 were plexiform neurofibromas, and 1 was a pilocytic astrocytoma in the brainstem. Patients with type 1 neurofibromatosis presented both peripheral neurofibromas and tumorous lesions of the central nervous system. Subjects with neurofibromas were older than those who did not present them, while subjects with UBOs were younger than those without such lesions. La neurofibromatosis tipo 1 es el trastorno neurocutáneo más frecuente. La mayoría de las series de casos publicadas son sobre la población pediátrica. Estudio transversal de los casos de neurofibromatosis tipo 1 en las consultas de neurología recogidos en una base de datos. Se han analizado las diferentes variables clínicas que conforman el diagnóstico, así como las variables demográficas y neurorradiológicas. Se han encontrado un total de 31 pacientes con neurofibromatosis tipo 1. La edad media ha sido de 28,9 años y el 58,4% son mujeres. Los sujetos con lesiones tipo Unidentified bright objects (UBO) son más jóvenes que los que no las presentan (22,45 ± 8,22 años vs. 32,5 ± 10,64; p = 0,011), por el contrario, los sujetos con neurofibromas son mayores que los que no los tienen (30,56 ± 10,68 años vs. 18,25 ± 4,34; p = 0,032). No hay diferencias de sexo en la presentación de las variables clínicas ni radiológicas. Siete pacientes presentaron tumores (22,6%), 3 fueron gliomas del tracto óptico (uno de ellos bilateral), 3 neurofibromas plexiformes y un astrocitoma pilocítico del troncoencéfalo. Los pacientes con neurofibromatosis tipo 1 no solo presentan lesiones tumorales a nivel periférico en forma de neurofibromas, sino también a nivel del sistema nervioso central. La edad de los sujetos que tienen neurofibromas es mayor que la que no los presentan, sin embargo, los que presentan UBO son más jóvenes que los que no poseen estas lesiones." @default.
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• W2078697981 date "2013-07-01" @default.
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• W2078697981 title "Clinical and neuroradiological signs in adults with type 1 neurofibromatosis" @default.
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• W2078697981 doi "https://doi.org/10.1016/j.nrleng.2012.09.001" @default.
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