Currently, much attention is paid to the study of the quality of life of patients suffering from chronic pathology. The quality of life is closely related to the patient’s awareness of confidence and well–being in many areas, not only with the perception of their physical condition, but also in many other aspects of life including social interactions, emotional experiences, spiritual values and in other areas. Cerebral palsy is a severe chronic disabling disease with the presence of not only motor disorders, but also speech, cognitive, mental health problems that lead to social maladaptation. There are special tools for quality of life assessment, which include various questionnaires. Some of them, for example, the Pediatric Quality of Life Inventory (PedsQL) has a special module “Cerebral palsy”, the following problems are covered: daily activities, movement and balance, pain, fatigue, eating. From the age of 5 years, the block «speech and communication», «school classes» is added. Such questionnaires allow assessing quality of life disturbances by cerebral palsy and use these data for dynamic observation during the treatment. The article presents the most objective studies of the quality of life with cerebral palsy. Pain in patients with cerebral palsy is a serious problem and has a significant negative impact on the quality of life. It has been shown that injections of botulinum toxin type A can not only lead to pain reduction, but significantly improve the functioning of patients with cerebral palsy and improve their quality of life. It is equally important to assess the quality of life of parents and relatives of sick children. There is evidence that severe motor disorders by cerebral palsy have a significant negative impact on the quality of life and the development of depression by mothers who take care of a child.

Contribution:
Nezhelskaya A.A. — сoncept and design of the study, writing the text, editing;
Kurenkov A.L. — сoncept and design of the study, writing the text, editing;
Kuzenkova L.M. — editing;
Bursagova B.I. — writing the text.
All coauthors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgments. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: August 25, 2022
Accepted: September 12, 2022
Published: September 30, 2022

Migraine as a primary disease is a very common problem. However, headache attacks that mimic migraine attacks can often be secondary, due to various type of pathology of cervical and cerebral vessels. The common or internal carotid arteries, vertebral arteries, and the anterior, middle, and posterior cerebral arteries, the anterior and posterior communicating arteries, or the basilar artery may be affected. Identification of such diseases is the primary task of differential diagnosis in migraine, especially migraine with aura, and secondary cephalgic syndromes, since in some cases we are talking about life-threatening conditions that require immediate intervention: rupture of brain artery aneurysm or arteriovenous malformation, dissection of one or more cervical arteries. Various types of ultrasound are successfully used to diagnose vascular diseases, ranging from “blind” dopplerography to three-dimensional reconstruction of blood vessels and contrast ultrasound. The defect of the oval window can be complicated by paradoxical microembolism, that can lead to impaired cerebral circulation. This anatomical feature is also available for diagnosis using ultrasound; and once the diagnosis is established, surgical closure of the foramen ovale defect reduces not only the prevalence of migraine with aura attacks, but also the risk of the stroke. This review article discusses the clinical and diagnostic aspects of cerebral aneurysms and arteriovenous malformations, dissection of brachiocephalic arteries’ wall. It also discusses the diagnosis of cerebral arteries’ microembolism, caused by the paradoxical movement of material emboli through non-closure of the foramen ovale, as the cause of one of the most formidable complications of migraine — stroke.

Contribution:
Tardov M.V. — concept, writing text;
Boldin A.V. — concept, editing;
Razumov A.N. — concept, editing.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: June 24, 2022
Accepted: July 27, 2022
Published: September 30, 2022

Leukodystrophies are a group of hereditary progressive diseases of the central nervous system characterized by selective lesions in white matter with specific involvement of glial cells.  There are hypomyelinating (absence of myelin deposition), demyelinating (loss of previously deposited myelin), dysmyelinating (deposition of structurally or biochemically abnormal myelin), and myelinolytic leukodystrophies (myelin vacuolization).

Hypomyelinating leukodystrophies (HL), like most leukodystrophies, debut in childhood or adolescence and are characterized by a progressive course of the disease.  HL occurs as a result of impaired synthesis of proteins responsible for the development, structure, and integrity of the myelin sheath, involved in the processes of transcription and translation.  In the latter group, the main role is assigned to HL associated with biallelic mutations in the genes of the RNA polymerase III transcription complex, POLR3: POLR3A, POLR3B, POLR1C and POLR3K. The diagnosis can be confirmed by magnetic resonance imaging of the brain.

POLR3A-associated HL is manifested by hypomyelination, hypodontia, and hypogonadotropic hypogonadism.  The magnetic resonance features of POLR3-associated HL include diffuse hypomyelination with relative preservation of the dentate nuclei, anterolateral nuclei of the thalamus, globus pallidus, pyramidal tracts at the level of the posterior part of the internal capsules, and the corona radiata.  In some cases, thinning of the corpus callosum and atrophy of the cerebellum were also noted.

The article presents a clinical case of a patient with POL3A-associated HL with spinal cord injury with the debut in early childhood.

Contribution: 
Popovich S.G. — concept, text writing, text editing;
Uvakina E.V. — concept, text writing, text editing;
Podkletnova T.V. — concept, text writing, text editing;
Kondakova O.B. — concept, text writing, text editing;
Firumyants A.I. — concept, text editing;
Kuzenkova L.M. — concept,  text editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: August 19, 2022
Accepted: September 09, 2022
Published: September 30, 2022

Subcortical band heterotopia (SBH) is a diffuse deterioration of cortical development, which is characterized by the location of heterotopic neurons in deep and subcortical regions of the brain parallel to the cortex, which creates the illusion of duplication of the cortex, from what this variant was named the «double cortex» syndrome. 

Data of five patients including three girls and 2 boys  were analyzed. The average age was 12.6 years (from 5 to 15). In all cases, heterotopia was bilaterally symmetrical: in 2 cases — diffuse, in 1 it was fronto-parietal, in 1 — temporal-occipital, and in 1 it was fronto-parietal-occipital. Concomitant cerebral malformations were presented in all patients: ventriculomegaly in 5 cases (100%), frontal pachygyria in 1 case (20.0%), diffuse pachygyria in 1 case (20.0%), and dysgyria in 1 case (20.0%). All 5 (100%) patients had epilepsy. The age of onset of epileptic seizures was 6.1 [5.6; 7.5] years. In 3 (60.0%) people epilepsy was focal, in 2 (40.0%) — generalized. There were the following types of epileptic seizures: infantile spasms — 1 (20.0%), focal — 3 (60.0%), tonic-clonic — 4 (80.0%), myoclonic — 2 (40.0%), attacks of cessation of motor activity — 1 (20.0%), atonic — 1 (20.0%). Status epilepticus and febrile-provoked seizures were no observed in any case. Interictal epileptiform activity was presented in all cases: regional in 3 (60.0%), diffuse in 1 (20.0%), and multiregional + diffuse in 1 (20.0%). Drug resistant course was in 3 (60.0%) people. Intellectual impairments were detected in 3 (60.0%) patients: mild — in 1 (20.0%), moderate — in 1 (20.0%), severe — in 1 (20.0%). In 2 (40.0%) observations, intelligence was intact, and in both cases these were patients without drug-resistant epilepsy and without concomitant pachygyria. Speech disorder was detected in 3 (60.0%) people, mild movement disorders — in 1 (20.0%), microcephaly — in 1 (20.0%). 

Thus, the leading clinical manifestation of SBH is epilepsy with a predominantly drug resistant course. More data are needed on the possibility of using alternative drug treatments.

Contribution:
Kulikova S.L. — concept, study design, patient data collection and analysis, literature review;
Likhachev S.A. — concept, study design;
Zmachynskaya O.L. — article correction, literature review;
Siz M.A. — EEG monitoring analysis of patients, included in the study.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Acknowledgments. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: July 20, 2022
Accepted: August 25, 2022
Published: September 30, 2022

Introduction. Intraneural synovial cyst is a rare pathological condition, which can be symptomatic due to the compression of the neighboring structures, including the peroneal nerve.

The purpose of this publication is to present a clinical case of intraneural ganglion of the peroneal nerve with a critical analysis of diagnostic and tactical errors in diagnosis and treatment tactics, and literature review. We present a clinical case of a patient with an intraneural cyst of the peroneal nerve, who had 3 surgical interventions over a period of 1.5 years from the age of 13 years, followed by recurrences without restoration of muscle function. The case demonstrates underestimation of the pathogenesis of the described condition — the presence of a communicant nerve between the proximal tibiofibular joint and the peroneal nerve and proximal tibiofemoral joint as the source of synovial effusion. Awareness in relation to this pathology will improve the efficiency of diagnosis. Interdisciplinary approach of pediatric neurologists, orthopedists, neurophysiologists and radiologists can shorten the diagnostic stage and enable the earliest and most effective surgical treatment to avoid irreversible consequences due to prolonged muscle denervation.

Contribution:
Kenis V.M. — concept, text writing;
Parshin D.V. — text writing and editing;
Sapogovskiy A.V. — text writing and editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: July 13, 2022
Accepted: August 25, 2022
Published: September 30, 2022