RT Journal Article
SR Electronic
T1 Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 375
OP 379
DO 10.17712/nsj.2020.5.20200081
VO 25
IS 5
A1 Fahad A. Bashiri
A1 Lama R. AlZamil
A1 Rawan A. Aldhuwayhi
YR 2020
UL http://nsj.org.sa/content/25/5/375.abstract
AB 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.