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Epilepsy and paroxysmal conditions

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Vol 12, No 1 (2020)

EDITOR-IN-CHIEF MESSAGE

NEWS

EDITOR-IN-CHIEF ARTICLE

ORIGINAL ARTICLES

9-25 422
Abstract

Aim: Based on published reports and our own observations, we aimed to assign the graphical elements of EEG into normal and abnormal groups and then identify up to five main graphic elements in each group to facilitate visual analysis and interpretation of EEG in young children.

Materials and methods. We searched for the relevant sources in the Medline and Medscape databases using the following keywords: «neonatal EEG», «neonatal seizures», «theta burst», «delta brushes», «trace discontinue», «burst-suppression», hypsarrhythmia», etc. Our own research was conducted using an Encephalan-EEGR-19/26 encephalograph equipped with children size gold cup electrodes with a diameter of 0.6 cm. Encephalograms were recorded from 10 electrodes according to the international “10-20” system.

Results and discussion. In early childhood EEGs, two large groups of EEG graphic elements can be discerned: the likely normative graphic elements and patterns of pediatric EEG (normal patterns) and the likely non-normative (abnormal) graphic elements and patterns of pediatric EEG. In the likely normative group, the main features are represented by: theta bursts, delta brushes, the “intermittent EEG curve” pattern, the occipital theta rhythm, and slow-sleep waves. In the likely non-normative group, those are: paroxysmal EEG graphic elements, asynchronous EEG patterns, spike-wave discharges, 3 Hz peak waves, hypsarrhythmia, burst-suppression pattern, rolandic occipital spikes, and a slowing rhythm pattern.

Conclusion. Along with the numerous attempts to characterize the age-dependent graphic elements at an early age, there are few reports concerning older children and adults. Here we try to overcome this discrepancy by identifying two large groups of graphic elements in EEG that are similar between infants and children of an older age. Such an approach may contribute to a better understanding of normal and pathological ontogenesis.

26-35 209
Abstract

Aim. To study the characteristics of carpal tapping in the normal condition and the effect of subclinical anxiety on its parameters with post-stroke epilepsy in adults.

Material and methods. We examined 140 people aged from 22 to 55 years. The total sample was divided into 3 observation groups: the first (I) group included healthy volunteers; the second (II) group included the patients with post-stroke frontal lobe epilepsy; the third (III) group included the patients with post-stroke temporal lobe epilepsy. Each group was divided into two subgroups: subgroup Ia (33 people) included healthy volunteers who did not show reliably expressed symptoms of anxiety; subgroup Ib (27 people) included healthy volunteers with subclinical anxiety; subgroup IIa (20 people) included patients with post-stroke frontal lobe epilepsy who did not show reliably expressed symptoms of anxiety; subgroup IIb (20 people) included patients with post-stroke frontal lobe epilepsy with subclinical anxiety; subgroup IIIa (19 people) included patients with post-stroke temporal lobe epilepsy who did not show reliably expressed symptoms of anxiety; subgroup IIIb (21 people) included patients with post-stroke temporal lobe epilepsy with subclinical anxiety. The parameters of carpal tapping were investigated using the modified author’s program “Method of influencing an individual human rhythm through exogenous rhythmic stimulation”.

Results. An acceleration of the individual rhythm was found in the presence of subclinically expressed anxiety both in healthy volunteers (from 1.13 Hz to 1.53 Hz) and in patients with post-stroke frontal lobe and temporal lobe epilepsy (from 2.07 Hz to 3, 45 Hz and from 1.83 Hz to 2.82 Hz, respectively). The rate of acceleration of the individual rhythm in patients with post-stroke frontal lobe and temporal lobe epilepsies was higher than in healthy volunteers (1.66 and 1.54 versus 1.35, respectively).

Conclusion. The effect of anxiety on the parameters of carpal tapping was greater in patients with post-stroke epilepsy compared with healthy volunteers.

36-50 341
Abstract

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.

CLINICAL CASES

51-58 264
Abstract

Aim. To consolidate literature data and to demonstrate rare hereditary neurogenetic syndromes with various neuropsychiatric manifestations and a corpus callosum (CC) structurally reduced in size.

Material and methods. Full text data from scholarly journals were used for the review. Mental and neurological disorders were studied in two examined patients with neurogenetic syndromes. A brain MRI showed that it was accompanied with CC hypoplasia. We conducted comprehensive analysis of anamnestic data as well as medical genetic, neurological, psychopathological, pathopsychological, laboratory, and instrumental examinations.

Results. The presented observations testified to a burdened obstetric history, dysfunctional ante-, intra-, and postnatal periods. The first patient with the Wolf-Hirschhorn syndrome was diagnosed with atypical autism associated with severe mental retardation, lack of verbal means of communication, motor stereotypes, structural focal epilepsy, cerebral palsy (CP), severe systemic speech underdevelopment; the second patient with the Prader-Willi syndrome was diagnosed with organic autism associated with mild mental retardation, impaired social adaptation in combination with stereotyped actions, impaired visual-spatial coordination, and cerebral palsy. In the first case, MRI showed posterior CC hypoplasia; in the second case, MRI showed hypoplasia of the CC isthmus.

Conclusion. The level of cognitive deficit was to some extent a value associated with the thickness of the posterior CC. Apparently, a higher degree of myelination of nerve fibers contributes to a higher rate of transmission of nerve impulses along nerve fibers stimulating neurons. The results can be considered preliminary; a larger study is needed.

59-66 239
Abstract

Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation. We present a rare clinical case of a delay in psychomotor and speech development, specific facial dysmorphia, impaired behavior, and a detected mutation in the ADNP gene. When conducting targeted exomic sequencing, we revealed a previously undescribed variant of the nucleotide sequence in the ADNP gene (p.Ala1017fs). Mutations in the ADNP gene in a heterozygous state were described for patients with Helsmoortel-van der Aa syndrome (OMIM: # 615873). Mutations in the ADNP gene are the genetic cause of ASD in 0.17% of cases. When interpreting the data of new generation sequencing (NGS) in patients with epileptic encephalopathy, ASD, and characteristic phenotype, it is advisable to take into account that the ADNP gene is one of the key genes responsible for embryonic neurodevelopment.

67-73 243
Abstract

The Struge-Weber syndrome is the third most common neurodermal disease after neurofibromatosis and tuberous sclerosis. This disease is not inherited, but occurs exclusively sporadically, both in men and in women, and in all races and ethnic groups. In 90% of cases, this syndrome is diagnosed in pediatric practice. Adult cases of this syndrome are sporadic, since they remain unrecognized due to the polymorphism of this disease. Comorbidity between epilepsy and the Sturge-Weber syndrome was noted.

Aim. To conduct a literature analysis and describe the clinical observation of epilepsy with the Sturge-Weber syndrome.

Materials and methods. Patient M., 50 years old has been observed for a long time due to complaints on episodes of numbness according to the hematotype with transient paresis. The examination (MRI) revealed changes characteristic for Sturge-Weber syndrome. The presence of specific paroxysmal changes according to the results of electroencephalography helped to verify the genesis of paroxysmal conditions.

Results. The patient underwent a comprehensive examination. As a result, the diagnosis of epilepsy was verified. The prescription of adequate antiepileptic therapy allowed for stabilization and jugulation of epileptic seizures.

Conclusion. In this clinical observation, we focus on the differential diagnosis between transient ischemic attack and epilepsy. Unfortunately, at the moment, adults with a previously undetectable syndrome undergo multiple hospitalizations and do not receive antiepileptic therapy, since the prior disease (epilepsy) is not verified.

REVIEW ARTICLE

74-81 218
Abstract

Low adherence to therapy in patients with epilepsy is today a serious problem, despite the emergence of new opportunities for the treatment of seizures. According to modern data, the level of non-adherence is 29–39%. Non-adherence is naturally associated with adverse clinical outcomes, such as status epilepticus and sudden death syndrome, which generally increase the risk of death. Thus, the study of the causes of low adherence in patients with epilepsy is necessary for doctors to develop strategies to increase it.

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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)