Abstract
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 1who 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 cafeau-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.