Neurofibromatosis type 1 in pediatrics: early diagnosis, neurological complications and clinical management

Introduction: Neurofibromatosis type 1 (NF1) is the most common monogenic neurocutaneous syndrome, affecting approximately 1 in 2,000 to 3,000 live births, and much of its morbidity emerges during childhood through neurological and tumoral complications. Objective: To synthesize the evidence published between 2020 and 2026 on early diagnosis, neurological complications and clinical management of NF1 in children and adolescents. Methods: Systematized review following PRISMA 2020 recommendations, with searches in PubMed/MEDLINE and SciELO using MeSH/DeCS descriptors combined with Boolean operators. Studies published from January 2020 to June 2026, in Portuguese, English or Spanish, with pediatric populations (0–18 years) or stratified pediatric data were included. Synthesis was qualitative and descriptive. Results: Of 470 records identified, 13 studies were included (five consensus statements/guidelines, four observational studies, three clinical trials and one review). The 2021 revised diagnostic criteria incorporated genetic testing and choroidal abnormalities, enabling earlier diagnosis in infants presenting only café-au-lait macules. Learning disabilities, attention-deficit/hyperactivity disorder, optic pathway glioma, plexiform neurofibromas and epilepsy were the most relevant neurological complications. MEK inhibitors (selumetinib and mirdametinib) achieved partial response rates between 52% and 71% in inoperable plexiform neurofibromas, with improvement in pain and function. Conclusion: Early diagnosis, structured clinical and ophthalmological surveillance and systematic neuropsychological assessment are the cornerstones of care for children with NF1, while targeted therapies have changed the outlook of symptomatic plexiform neurofibromas. Multidisciplinary follow-up in reference centers remains essential. (AU)