Résumé
Resumen Las crisis atónicas focales son poco reconocidas como fenómenos ictales, pueden corresponder tanto a una epilepsia generalizada como a una epilepsia focal. Las áreas del cerebro implicadas en la gestión de este tipo de crisis son: el área motora negativa y las cortezas motora primaria y somatosensitiva primaria, aunque aún la neurofisiología que las genera no está aclarada. Presentamos el caso de un paciente con crisis atónicas focales farmacorresistentes en miembro superior iz quierdo. Se realizó resonancia de cerebro con diagnóstico de displasia cortical parietal, se monitoreó con video EEG de scalp y luego a video EEG con electrodos profundos. Se definieron el área epileptógena y su relación con áreas elocuentes, se realizó resección quirúrgica de la lesión, logrando el control completo de las crisis.
Abstract Focal atonic seizures are recognized rarely as ictal phenomena, they can correspond to both generalized epilepsy and focal epilepsy. The areas of the brain in volved in the management of this type of seizure are: the negative motor area and the primary motor and primary somatosensory cortices, although the neurophysiology that generates them is still unclear. We present the case of a patient with focal atonic seizures in the left upper limb, refractory to drug treatment. Neuroimaging was performed, a parietal cortical lesion was diagnosed. A scalp Video EEG and then a Stereo EEG was performed, defining the epileptogenic area and its relationship with eloquent areas. Surgical resection of the lesion was performed, achieving complete seizure control.
Résumé
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.