Despite significant advances in epileptology, approximately one-third of patients suffer from drug-resistant epilepsy. Numerous approaches are currently available to treat epilepsy; however, there are still many patients with treatment-resistant epilepsy, in whom antiepileptic drugs are ineffective and surgical treatment is impossible. Thus, searching for new effective antiepileptic drugs and alternative treatments (such as vagus nerve stimulation) for these patients remains highly relevant. This literature review covers the indications for and the efficacy and tolerability of vagus nerve stimulation in patients with epilepsy. We also report a case of successful treatment of a patient with drug-resistant epilepsy using this method.
Introduction. Cortical dysplasias (CDs) encompass a wide variety of disorders that in most cases lead to epilepsy, especially in infants and young children. MRI diagnosis of CDs is a major part of presurgical examination of pediatric patients with resistant focal epilepsy.Aim. To identify MR markers of CD in the immature brain and develop an MRI protocol for early diagnosis of CDs.Materials and methods. Children aged <2 y.o. (total 128) diagnosed with focal epilepsy were examined over 2017-2019. All MRI scans were performed using the GE 3 T system (General Electric, USA) in the standard MR sequences including T2WI FSE, T1 SE, FLAIR, DWI, SWAN, and FSPGR BRAVO supported with anesthesiological assistance. Аll patients were divided into 3 groups according to the degree of brain maturity; of those, 28 patients had MR signs of CD.Results. The rate of detection of small-size cortical malformations, such as nodular heterotopies or focal cortical dysplasias was significantly higher in groups of patients whose brains (according to MR images) were at the infantile or adult phases of myelination. In children with the isointensive phase myelination, only large cortical dysplasias could be identified. In the first phase, the focal malformations had low amplitude signals in T2-weighted images and high amplitude signals in T1, unlike those in adult patients. In the isointensive phase, the quality of visualization was significantly reduced and provided poor diagnostic information.Conclusion. The results confirm the diagnostic significance of early (before age of 5 months) MRI testing in cases with suspected CD-associated focal epilepsy. However, at the period between 5 and 12 months of age, MR imaging was ineffective for CD diagnosing. Later, in the period from 12 to 15 months, the MRI ability to identify the CDs gradually increased. We consider the standard T2 weighted images with high TR values, the most effective MR modality for diagnosing CDs in young children.
Tuberous sclerosis is one of the genetically determined neurodermal syndromes, characterized by focal epilepsy, which is resistant to drug therapy in most cases. Tuberous sclerosis has not been surgically treated for a long time due to the multifocal nature of brain damage. However, using new instrumental methods the surgeon can isolate tuber – “drivers”, responsible for epileptic induction, which, therefore, can be a target for surgical removal. The article presents a clinical case of the treatment of pharmacoresistant epilepsy in a 17-year-old girl with tuberous sclerosis and normal neuropsychiatric and cognitive status; the surgeon managed to achieve a complete regression of seizures after the surgical removal of one of the tubers. Using a multimodal complex of examinations, including high-resolution magnetic resonance imaging and invasive electroencephalographic monitoring, the surgeon managed to identify the “inductor” tuber associated with the epileptic initiation zone among multiple cortical tubers. This section of the cerebral cortex was subjected to surgical resection. For the entire postoperative period (16 months) there were no seizures and antiepileptic drugs were canceled; cognitive processes, memory were improved. Thus, active surgical tactics may be effective in more than 50% of patients with tuberous sclerosis and pharmacoresistant epilepsy. This case confirms the need for a multidisciplinary examination prior to the surgery in patients with tuberous sclerosis.
Aim. To approve of diagnostic effectiveness of SWAN (SWI) images in revealing of calcium containing epileptogenic substrates in children with resistant focal epilepsy.Materials and methods. The results of MRI in children with refractory focal epilepsy obtained in the Radiology Department of the Russian State Children Hospital in the period from 2018 to 2020 were observed retrospectively. High-resolution epileptological MR protocol used for investigation of 67 children. SWAN was applied in all cases for identification of calcium containing epileptogenic substrates, including cavernomas, DVA syndrome, cortical gangliogliomas, Sturge-Weber syndrome and tuberous sclerosis complex. All images were received by using MRI 3T 750 W Discovery GE.Results. In 17 cases (25%) SWAN provided important diagnostic information about the nature of the of epileptogenic lesion, its prevalence and borders. Additional earlier invisible structural changes were revealed in 2 cases of SWS and 1 cases of FCD; and in 13 cases SWAN gave us possibility to avoid CT for approving calcium in epileptogenic focus.Conclusion. We believe that adding SWAN in to the epileptological MR protocol is the necessary step for optimizing calcium and blood degradation products identification in the structure of potential epileptogenic focuses. Moreover, it would be very effective instrument for differential diagnosis of cerebral structural changes, specifying its etiology and, hence, would have influence on the therapeutic tactic and surgical strategy in children with focal epilepsy.
Introduction. MRI revealing the epileptogenic foci is the central part of the presurgical evaluation of children with focal-resistant epilepsy. Besides that, MRI seems to be a reliable instrument of treatment optimization and good prognosis. Aim. To identify epileptogenic lesions in children with resistant focal epilepsy by high resolution (HR) MRI and comparing obtained data with postsurgical morphology. Materials and methods. We assessed the results of neuroimaging, EEG, clinical neurological status, and postsurgical morphological data in 65 children with focal epilepsy who had undergone antiepileptic surgery in Russian State Children Hospital, neurosurgery department (Moscow, Russia) from 2016 to 2020. Results. The broad spectrum of epileptogenic lesions was revealed by HR MRI, including focal and diffuse cortical dysplasias (44.6%), cortical post hypoxic gliosis (27.7%), glial tumors (7.7%), Rasmussen encephalitis (10.8%), tuberous sclerosis, and Sturge-Weber syndrome (3%), small angiodysplasias (4.6%) and other. Focal cerebral dysplasia had an obvious superiority as the main etiological factor in focal epilepsy and was approved in 33.8% of all patients. In all cases, epilepsy is characterized by frequent and resistant seizures, inflicting motor arrest, and psycho-emotional deterioration. Conclusion. HR MRI and multidisciplinary investigation have to be unchangeable standards in the presurgical evaluation of children with focal epilepsy. This approach’s effectiveness has reassuring confirmation by high level (95.2%) of total coincidence MRI and morphological results.
The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”. This disorder is a complex combination of symptoms that develop due to deficiency or absence of the CDKL5 gene product, which is serine/threonine kinase. The CDKL5 gene is located on X chromosome; the disease has an X-linked dominant inheritance pattern. This literature review summarizes relevant studies analyzing the disease caused by CDKL5 gene mutations, including its genetic and epidemiological aspects, clinical manifestations, characteristics of epilepsy, principles of diagnosis, and therapeutic approaches. We present a case series of several patients with genetic disorders involving the CDKL5 gene.
This article provides a detailed description of clinical and electroanatomical characteristics of epilepsy in patients suffering from epileptic trances – a rare type of focal motor seizures with ambulatory automatism manifesting as an unplanned travel. We reviewed the currently available data on the nature of psychical seizures in patients with epilepsy and the role of social and legal expertise for this disease. We developed the criteria for differential diagnosis between epileptic trances and other conditions with similar manifestations (for example, epileptic fugues) and identified a diagnostic minimum. We also proposed a hypothesis of ictal spatial migration. We emphasized the efficiency of surgical treatment in the case of compliance with a proper diagnostic algorithm.
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