TY - JOUR T1 - Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center JF - Neurosciences Journal JO - Neurosciences (Riyadh) SP - 375 LP - 379 DO - 10.17712/nsj.2020.5.20200081 VL - 25 IS - 5 AU - Fahad A. Bashiri AU - Lama R. AlZamil AU - Rawan A. Aldhuwayhi Y1 - 2020/10/01 UR - http://nsj.org.sa/content/25/5/375.abstract N2 - Objectives: To identify the clinical and neuroradiological features of neurofibromatosis type 1 and the risk of malignancy in a pediatric age group.Methods: This observational retrospective cohort study was conducted at King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia, for the patients with neurofibromatosis type 1 who were seen and had follow up from January 2000 to January 2019.Results: A total of 50 children were included. Approximately 90% of patients presented with café-au-lait macules, and 34% had skin-fold freckling. Moreover, 42% of the participants had a first-degree relative with neurofibromatosis type 1, and about a quarter presented with associated epilepsy. About 90% of the neuroradiological features were consistent with those of neurofibromatosis type 1. About 52% of the patients had one or multiple types of tumors, and 34% presented with optic pathway glioma.Conclusion: This study described clinical spectrum of neurofibromatosis type 1 among children. It showed also a higher percentage of tumors than previous studies. ER -