Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center

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.