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A neurofibromatose do tipo 1 (NF1) é uma doença multissistêmica autossômica dominante, que acomete cerca de uma criança a cada 2.600/3.000 nascidos vivos. A doença ocorre como resultado da mutação no cromossomo 17q11.2, levando a uma diversificada expressividade clínica mesmo entre indivíduos dentro de uma mesma família. O diagnóstico é clinico e baseado na presença de características como as manchas café com leite, nódulos de Lisch, neurofibromas, as efélides inguinais e axilares, neurofibromas plexiformes, glioma óptico, alterações ósseas, endócrinas, do sistema nervoso central e dificuldades de cognição e aprendizado, característicos da NF1. Crianças e adolescentes ainda hoje sofrem não só com as dificuldades biológicas e complicações próprias da doença, mas também com os estigmas e preconceitos devido ao modo como ela se manifesta externamente, muitas vezes deformando fisicamente o indivíduo.

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Introduction Posterior Circulation (PC) stroke represents one-fifth of all ischemic strokes, with peculiar physiological characteristics. Hemorrhagic Transformation (HT) is a dreaded complication among stroke patients. Many predictive scores of this complication have been proposed, but none is designed specifically for PC stroke patients – therefore, patients who are not eligible to reperfusion therapies (RT) represent about 80% of hospitalized cases. We propose a scoring system to assess the HT risk in PC stroke patients not submitted to RT. Methods We retrospectively evaluated data of patients diagnosed with PC stroke not treated with RT from 5 Comprehensive Stroke Centers (four in Brazil, 1 in the US) from 2015 to 2018. All patients underwent CT scan or MRI at admission and a follow-up neuroimaging within seven days. Independent variables identified in a logistic regression analysis were used to produce a predictive grading score.Results We included 952 patients in the final analysis. The overall incidence of HT was 8.7%. Male gender (1 point), NIH Stroke Scale at admission ≥ 5 points (1), blood glucose at admission ≥ 160mg/dL (1), and cardioembolism (2) were independently associated with HT. The AUC of the grading score (0 to 5 points) was 0.713 (95% CI 0.65-0.78). Subjects with a score ≥ 3 points had an OR of 4.8 (95% CI 2.9-7.9, p<0.001) for HT.Conclusions Our score is accurate in identifying patients at higher risk of HT. This score may be useful for evaluating secondary prevention and stratifying patients in the context of even clinical trials.