PAROXYSMAL STATES IN ADULTS (LITERATURE REVIEW)

В данной статье автор рассматривает вопросы пароксизмального расстройства сознания у взрослых, которые выражаются в эпилептических припадках, потери сознания, обморок, панические атаки, расстройства сна. Оценка временных нарушений сознания имеет решающее значение для диагностики эпилептических припадков, обмороков, парасомний, органических энцефалопатий и психогенных непилептических припадков A temporary change in consciousness is the main clinical problem of neurology. Assessment of transient disorders of consciousness is crucial for the diagnosis of epileptic seizures, syncope, parasomnias, organic encephalopathies, and psychogenic non-pictorial seizures. Attacks and other disorders of consciousness converge on a common set of cortical and subcortical structures. These structures constitute the "system of consciousness."Paroxysmal disorders are one of the most important problems of modern clinical medicine, which is characterized by a steady increase in the frequency of these pathological conditions in people of young and middle age and the diagnostic complexity of many conditions. The analysis of modern publications, presented the results of their own observations on the studied problem.

Hyperekplexiа. Clinical observation

The differential diagnosis of paroxysmal conditions, as well as disorders of muscle tone (hypertension) in the neonatal period and in young children is quite complicated. Various states of the nervous system in newborns are transient and permanent, optimal and suboptimal, normal and pathological. Among them, we can mention non-epileptic paroxysmal states of early childhood. In some cases, non-epileptic paroxysmal states of early childhood is accompanied by motor disorders, manifested by an excessive increase in limb tone in newborns. This pathological condition of muscle tone in the English-language literature is referred to by the term stiffness baby (the syndrome of a rigid or fettered baby). Neonatal pathological muscle hypertonicity, unlike physiological hypertonicity of muscles of a newborn, is a rather rare condition. The article presents literature data and a description of the clinical observation of a patient with hyperekplexia. Hyperekplexia is a rare paroxysmal movement disorder in young children. The main clinical variants of the disease, methods of diagnosis and correction, the main mutations associated with this condition are considered. The article describes the own clinical observation of an early-age patient with hyperekplexia, its clinical picture, features of paroxysmal states and therapy, neuroimaging data, electroencephalographic phenomena recorded in the patient and genetic testing that confirmed the diagnosis of non-epileptic paroxysmal disorders. The child has a mutation in the ATAD1 gene associated with type 4 Hyperekplexia (618011).

PRRT2 Related Epilepsies: A Gene Review

PRRT2 encodes for proline-rich transmembrane protein 2 involved in synaptic vesicle fusion and presynaptic neurotransmitter release. Mutations in human PRRT2 have been related to paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with choreoathetosis, benign familial infantile epilepsies, and hemiplegic migraine. PRRT2 mutations cause neuronal hyperexcitability, which could be related to basal ganglia or cortical circuits dysfunction, leading to paroxysmal disorders. PRRT2 is expressed in the cerebral cortex, basal ganglia, and cerebellum. Approximately, 90% of pathogenic variants are inherited and 10% are de novo. Paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and ballismus. In the benign familial infantile epilepsy (BFIE), seizures are usually focal with or without generalization, usually begin between 3 and 12 months of age and remit by 2 years of age. In 30% of cases of PRRT2-associated PKD, there is an association with BFIE, and this entity is referred to as PKD with infantile convulsions (PKD/IC). PRRT2 mutations are the cause of benign family childhood epilepsy and PKD/IC. On the other hand, PRRT2 mutations do not seem to correlate with other types of epilepsy. The increasing incidence of hemiplegic migraine in families with PRRT2-associated PKD or PKD/IC suggests a common disease pathway, and it is possible to assert that BFIE, paroxysmal kinesigenic dyskinesia, and PKD with IC belong to a continuous disease spectrum of PRRT2-associated diseases.

The effectiveness of therapy correction in children with paroxysmal disorders of consciousness based on the results of video electroencephalographic monitoring

Background. An important condition for adequate drug therapy is the early differential diagnosis of paroxysmal conditions in children, the estab lishment or clarification of their epileptic or non-epileptic nature.Objective: to demonstrate the necessity, effectiveness and safety of the correction therapy in children with paroxysmal disorders of consciousness according to results of complex investigation, including video-electroencephalographic monitoring.Materials and methods. A comprehensive examination with the inclusion of video-electroencephalographic monitoring was carried out in 527 pa tients referred by neurologists to clarify the nature of paroxysmal consciousness disorder, clarify the form of epilepsy, and select an adequate treatment.Results. Based on the results obtained during the comprehensive examination of children with video-electroencephalographic monitoring, in all the examined children the diagnosed was corrected. According to the results of the survey, it was found that 210 children had non-epileptic paroxysms. In the overwhelming majority of cases, the treatment was changed.Conclusions. The presented results of treatment of children with epileptic and non-epileptic paroxysms after correction of treatment indicate the need for careful analysis of all data (clinical and anamnestic, electroencephalographic, laboratory) for correct diagnosis, identification of causes of resistance and reasonable selection of therapy in each patient.

The European Reference Network for Rare Neurological Diseases

While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have “the knowledge travel instead of the patient,” which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. At the moment, it unites 32 expert centers and 10 affiliated partners in 21 European countries, as well as patient representatives, but will soon cover nearly all countries of the European Union as a result of the ongoing expansion process. Disease expert groups developed and consented on diagnostic flowcharts and disease scales to assess the different aspects of RNDs. ERN-RND has started to discuss diagnostically unclear patients in the CPMS, is one of four ERNs that serve as foundation of Solve-RD, and has established an RND training and education program. The network will facilitate trial readiness through the establishment of an ERN-RND registry with a minimal data of all patients seen at the ERN-RND centers, thus providing a unique overview of existing genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public.

Non-Epileptic Paroxysmal Events in Infants: stucture, manifestation and risk factors

During 3 years we observed in specialized neurological department of St. Olga Children’s City Hospital 708 babies aged up to 42 months with different paroxysmal disorders. Non-epileptic paroxysmal events (NEPE) were diagnosed in 98 cases. These disorders were qualified (according to ILAE criteria) as differentiated and undifferentiated NEPE. In most cases neurophysiological assessment data, neurovisualization data, and neurological status of infants with NEPE and babies from comparison group varied marginally. It was shown that NEPE development correlated with perinatal factors, and with infants’ developmental diseases (functional gastrointestinal disorders, iron deficiency states, chronic or persistent infections). The obtained data was interpreted according to the developmental neurology principles (optimality concept, in particular).

Neuroglobin and Prolactin As Potential Biomarkers for Differentiating Epileptic versus Nonepileptic Paroxysmal Disorders in Children

At least 20% of patients referred to pediatric epilepsy centers with the suspicion of epileptic seizures actually have other conditions. Neuroglobin is a new globin member which is highly expressed in the central and peripheral nervous systems. We aim to evaluate usefulness of neuroglobin to differentiate between epilepsy and other conditions that mimic epilepsy. Our study was conducted on 90 children divided into three groups: 30 patients with epileptic seizures, 35 children with nonepileptic paroxysmal disorder, and 25 apparently healthy, age and sex-matched children as a normal control. Complete blood count, blood chemistries including random blood glucose, calcium, sodium, in addition to serum prolactin, and neuroglobin were performed for all children. The study showed a significant increase of both serum neuroglobin and prolactin levels in epileptic group compared with nonepileptic paroxysmal disorder and control groups (p < 0.01). Serum neuroglobin showed 95% sensitivity and 95.7% specificity in the diagnosis of generalized seizures. Serum neuroglobin may be a promising novel marker to differentiate epileptic versus nonepileptic disorders in children in the emergency setting, when history and clinical presentation are equivocal.