TY - JOUR
T1 - Clinical characteristics of epilepsy and its risk factors in neurofibromatosis type 1
T2 - A single-center study
AU - Shin, Areum
AU - Byun, Jun Chul
AU - Hwang, Su Kyeong
AU - Kwon, Soonhak
AU - Lee, Yun Jeong
N1 - Publisher Copyright:
© 2021 Korean Child Neurology Society.
PY - 2021/1
Y1 - 2021/1
N2 - Purpose: This study investigated the clinical characteristics and risk factors of epilepsy in patients with neurofibromatosis type 1 (NF1) at a tertiary center. Methods: The medical records of 103 children diagnosed with NF1 from February 2009 to July 2019 were retrospectively reviewed. Demographic features, NF1-related features, seizure characteristics, treatment outcomes, and electroencephalography and brain magnetic resonance imaging (MRI) findings were compared between patients with and without epilepsy. Results: Among the 103 patients (median age, 11.5 years; age range, 1.0 to 34.8), 14 (13.6%) had epilepsy. The median age of seizure onset was 5.8 years (range, 1.1 to 18.9). Focal and generalized seizures were observed in nine (64.3%) and six (42.9%) patients, respectively. Five patients (35.7%) had a history of status epilepticus and one of them died of it. Two patients (14.3%) had drug-resistant epilepsy. On brain MRI obtained at the time of seizure onset, seven (50%) patients had unidentified bright objects and three (21.4%) had other structural abnormalities. Learning disability (odds ratio [OR], 4.5; 95% confidence interval [CI], 1.17 to 17.5) and a family history of epilepsy (OR, 39.7; 95% CI, 3.78 to 416.53), but not structural abnormalities, were significant risk factors for epilepsy. Conclusion: Epilepsy was more common in NF1 patients than in the general population. NF1 patients with epilepsy had various seizure types, but exhibited relatively good outcomes. The types of brain abnormalities were not significantly different between patients with and without epilepsy. Our results suggest that mechanisms other than structural brain abnormalities should be considered epileptogenic in NF1 patients.
AB - Purpose: This study investigated the clinical characteristics and risk factors of epilepsy in patients with neurofibromatosis type 1 (NF1) at a tertiary center. Methods: The medical records of 103 children diagnosed with NF1 from February 2009 to July 2019 were retrospectively reviewed. Demographic features, NF1-related features, seizure characteristics, treatment outcomes, and electroencephalography and brain magnetic resonance imaging (MRI) findings were compared between patients with and without epilepsy. Results: Among the 103 patients (median age, 11.5 years; age range, 1.0 to 34.8), 14 (13.6%) had epilepsy. The median age of seizure onset was 5.8 years (range, 1.1 to 18.9). Focal and generalized seizures were observed in nine (64.3%) and six (42.9%) patients, respectively. Five patients (35.7%) had a history of status epilepticus and one of them died of it. Two patients (14.3%) had drug-resistant epilepsy. On brain MRI obtained at the time of seizure onset, seven (50%) patients had unidentified bright objects and three (21.4%) had other structural abnormalities. Learning disability (odds ratio [OR], 4.5; 95% confidence interval [CI], 1.17 to 17.5) and a family history of epilepsy (OR, 39.7; 95% CI, 3.78 to 416.53), but not structural abnormalities, were significant risk factors for epilepsy. Conclusion: Epilepsy was more common in NF1 patients than in the general population. NF1 patients with epilepsy had various seizure types, but exhibited relatively good outcomes. The types of brain abnormalities were not significantly different between patients with and without epilepsy. Our results suggest that mechanisms other than structural brain abnormalities should be considered epileptogenic in NF1 patients.
KW - Epilepsy
KW - Learning disabilities
KW - Neurofibromatosis 1
KW - Risk factors
UR - http://www.scopus.com/inward/record.url?scp=85110042309&partnerID=8YFLogxK
U2 - 10.26815/acn.2020.00283
DO - 10.26815/acn.2020.00283
M3 - Article
AN - SCOPUS:85110042309
SN - 2635-909X
VL - 29
SP - 1
EP - 7
JO - Annals of Child Neurology
JF - Annals of Child Neurology
IS - 1
ER -