Clinical and electroencephalogram characteristics of pattern-sensitive epilepsy
10.3760/cma.j.cn101070-20231225-00444
- VernacularTitle:图形敏感性癫痫的临床及脑电图特征
- Author:
Ya′nan CUI
1
;
Yue NIU
;
Jingjing LIANG
;
Jiong QIN
;
Zhixian YANG
Author Information
1. 北京大学人民医院儿科，北京 100044
- Keywords:
Epilepsy;
Pattern-sensitivity;
Electroencephalogram;
Photo-sensitivity
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(8):602-605
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and electroencephalogram (EEG) characteristics of pattern-sensitive epilepsy (PSE).Methods:This retrospective case summary study enrolled 4 pediatric patients with PSE treated at the Peking University People′s Hospital from January 2015 to September 2023.The clinical data, EEG findings, treatments, and prognosis were retrospectively analyzed.Results:Among the 4 patients, 3 were female, and 2 had developmental delays before the onset of the disease.Spontaneous seizures occurred in 3 cases, including spasticity and tonic seizures in case 1, atypical absence seizures, myoclonic seizures, and general tonic-clonic seizures in case 3, and eyelid myoclonic seizures in case 4.All 4 cases exhibited pattern-induced reflex seizures, and pattern-induced seizures with photosensitivity were monitored by EEG in 3 cases.Of the 3 cases, 1 had myoclonic seizures, 1 had eyelid myoclonic seizures, and 1 had both myoclonic seizures and focal to bilateral tonic-clonic seizures.Two out of the 4 patients were diagnosed with epilepsy syndromes: Lennox-Gastaut syndrome and epilepsy with eyelid myoclonia.All 4 patients had interictal discharges, including 2 cases of generalized discharges, 1 case of multifocal discharges combined with generalized discharges, and 1 case of anterior head discharges.Three cases underwent the detection of whole exon gene and copy number variation, and 1 case showed a novel heterozygous mutation c. 73T>C(p.W25R) in the MBD5 gene on chromosome 2.Three patients were treated with antiseizure medication (ASM), while 1 did not receive ASM treatment because the seizures were all induced.However, none of the 4 had seizures under control after 5 to 10 years of follow-up. Conclusions:PSE is more common in female children and may co-occur with developmental delays and intellectual disabilities.In PSE children, the EEG shows mostly generalized discharges, spontaneous seizures, induced seizures, and predominantly generalized seizures coexist.Reflex seizures in PSE patients are more difficult to control with ASM treatment.
