Neurosciences (Riyadh, Saudi Arabia) · 2020
Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Bashiri Fahad A, AlZamil Lama R, Aldhuwayhi Rawan A
Аннотация
OBJECTIVE: 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 cafe-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.
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 cafe-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.