Clinical features and treatment of epilepsy with myoclonic-atonic seizures in children
10.3760/cma.j.issn.2095-428X.2018.10.015
- VernacularTitle:儿童肌阵挛-失张力癫痫的临床特征及治疗
- Author:
Xiaolu DENG
1
;
Fang HE
;
Liwen WU
;
Lifen YANG
;
Chen CHEN
;
Fei YIN
;
Jing PENG
Author Information
1. 410008长沙,中南大学湘雅医院儿科,湖南省儿童智力障碍研究中心
- Keywords:
Child;
Epilepsy with myoclonic-atonic seizures;
Ketogenic diet;
Gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(10):773-777
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the clinical features,treatment and prognosis of epilepsy with myoclonic-atonic seizures (MAE),in order to provide the data for treatment choice.Methods The clinical data of 7 cases diagnosed as MAE between June 2014 and February 2017 from Department of Pediatrics,Xiangya Hospital of Central South University,were obtained and analyzed.The clinical data included gender,onset age,seizure types,electroencephalography (EEG) pattern,brain magnetic resonance imaging (MRI),genetic testing,treatments,outcome,and so on.Results In 7 cases,5 cases were male and 2 cases were female.Ages of onset were 16 months to 52 months.All patients had myoclonic-atonic and myoclonic seizures.Background EEG activity showed diffuse slow delta waves in all patients.The EEG recordings showed 1.5-3.5 Hz generalized spike-and-wave and polyspike-and-wave in all cases.Chromosome testing,copy number variations (CNVs) and exome-sequencing studies (trios) were performed in 3 cases,in which 1 case was found normal,1 case had mutation for CLN6 (c.434A ＞T) and 1 case had mutation for SLC6A1 (c.714 + 1G ＞ A) were found.Six cases were seizure-free.Seizures were controlled by combination of antiepileptic drugs (AEDs) in 2 cases.The seizures of 2 cases were controlled by adrenocorticotropic hormone (ACTH) and AEDs.The seizures of 2 cases were controlled by ketogenic diet (KD) and AEDs,and 1 case experienced a seizure reduction.Seven patients showed better EEG findings after treatment.Cognitive decline was observed in all cases.Conclusion Diagnosis of MAE relies on the clinical manifestations of epileptic seizures,EEG findings,as well as neurological manifestation.Genetic factors have been considered to play an important role in the etiology of MAE.Combination of Valproate and other AEDs is effective in drug treatment.KD and ACTH have been shown to have superior efficacy compared with traditional medical treatment.
