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Russian Journal of Child Neurology

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Vol 18, No 1 (2023)
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REVIEWS AND LECTURES

10-21 670
Abstract

Acute disseminated encephalomyelitis is an acute autoimmune demyelinating disease that manifests as a widespread polyfocal asymmetric lesions of the central nervous system and, in some cases, optic nerves with the formation of corresponding neurological symptoms. This lecture presents basic information about acute disseminated encephalomyelitis with consideration of 5 clinical cases demonstrating the variety of manifestations of this disease in the practice of a neurologist.

22-37 647
Abstract

Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases with an autosomal dominant type of inheritance associated with expansion in the DMPK gene. A distinctive feature of the disease is the presence of muscle symptoms and multisystemic. Depending on the age of onset and the number of CTG repeats, there are congenital, infantile, juvenile, classic (adult) form and a form with a late onset. Each form is characterized by its own features of the onset, course of the disease, heterogeneity of clinical manifestations, which makes it difficult to make a timely diagnosis. Increasing the awareness of physicians of all specialties about the nature of the course of various forms will make it possible to diagnose MD1 at an earlier stage, improve the prognosis and quality of life of patients. The article provides a literature review that demonstrates the spectrum of clinical manifestations in various forms of MD1.

38-45 458
Abstract

In the past few years, results from experimental and clinical studies have shown that inflammation can be both a consequence and a cause of epilepsy. Distinctive features of mesenchymal stem cells (MSCs) are their immunomodulatory and anti-inflammatory properties, which indicate promise in the field of epilepsy treatment.

The article presents a review on the preclinical and clinical use of MSCs in the treatment of epilepsy, and outlines the mechanism of MSCs therapeutic action of in this disease. The authors focused on the analysis of all available in the literature clinical cases of MSCs use in the treatment of epilepsy, as well as the effectiveness and undesirable effects of therapy. The use of MSCs indeed has a significant effect in reducing the number of seizures and has a positive effect on mental functions, however, at present, this method of therapy is not ready for widespread clinical use due to the short period of observation in clinical trials and increased risks of developing immunological and oncological complications in patients.

CLINICAL OBSERVATIONS

46-51 683
Abstract

In this article, we report a case of CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy and also provide a literature review on the problem. CTNNB1 syndrome is an exceedingly rare and poorly studied disorder, which makes it particularly interesting due the difficulties associated with its diagnosis and description of the disease phenotype, as well as highly polymorphic clinical manifestations. Verification of the diagnosis is important to determine the prognosis of a child with cerebral palsy and visual impairment, as well as for reproductive planning in the family.

52-56 915
Abstract

We presented a clinical case of idiopathic autoimmune brainstem encephalitis in a 12-year-old female patient. At the onset of the disease, which developed after a respiratory infection, the clinical picture was accompanied by oculomotor and bulbar syndromes. The diagnosis of Bickerstaff brainstem encephalitis was made based on clinical diagnostic criteria and the positive effect of the course of intravenous immunoglobulin therapy. During 3 years of follow-up, there were periods of relapse of the disease, during which symptoms not typical for Bickerstaff stem encephalitis appeared. Against the background of long-term immunosuppressive therapy, there was a long-term remission of about 2 years. The clinical picture, the presence of relapses, the data of additional methods forced to reconsider the diagnosis in favor of idiopathic autoimmune brainstem encephalitis.

57-64 532
Abstract

Despite the advances in pharmacology, there are still some patients with drug-resistant inoperable epilepsy. Individual ketogenic diet might be an effective measure to prevent seizures. A ketogenic diet must be used only after consulting a dietitian, since it has contraindications and may cause complications. This article focuses on the mechanism of action of the ketogenic diet, indications and contraindications to it, and also describes our experience of using ketogenic diet in a patient with structural focal epilepsy and a typical history of the disease, side effects of antiepileptic drugs, and low compliance of antiepileptic therapy.

CONFERENCES, SYMPOSIUMS, MEETINGS



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ISSN 2073-8803 (Print)
ISSN 2412-9178 (Online)