[A case of a pathological variant of the PRRT2 gene in twins with paroxysmal kinesiogenic dyskinesia]. / Sluchai patologicheskogo varianta gena PRRT2 u bliznetsov s paroksizmal'noi kineziogennoi diskineziei.

Paroxysmal dyskinesia is a clinically and etiologically polymorphic group of diseases, the main clinical manifestation of which is transient attacks of extrapyramidal movements, with different conditions of occurrence. Paroxysmal kinesigenic dyskinesia belongs to the group of primary dyskinesias, which also includes paroxysmal non-kinesigenic dyskinesia and exercise-induced paroxysmal dyskinesia. The most common cause of paroxysmal kinesiogenic dyskinesia is mutations in the PRRT2 gene; in cases of non-kinesiogenic dyskinesia, a mutation in the MR1 gene is detected. The diagnosis of primary dyskinesias causes significant difficulty for clinicians due to the rarity of occurrence, as well as the large spectrum of conditions occurring with paroxysmal motor disorders in childhood. The article describes the clinical observation of 16-year-old twin brothers with transient attacks of dystonic, choreic and ballistic hyperkinesis that suddenly arose during movement. Patients were treated for tics and epilepsy for 12 years. Taking into account the clinical picture - transient attacks of hyperkinesis, their connection with movement, as well as data from video-electroencephalographic monitoring, a diagnosis of paroxysmal kinesiogenic dyskinesia was established, which in a further diagnostic search was confirmed by targeted sequencing of the pathological variant of the PRRT2 gene previously described in patients with kinesiogenic dyskinesia. The administration of carbamazepine, which is the drug of choice in the treatment of this category of patients, has achieved significant control over hyperkinesis in twins. Thus, molecular genetic diagnosis helps confirm the diagnosis of paroxysmal dyskinesias, but careful analysis of the clinical picture, considering the provoking factor, remains the basis of diagnosis.

[A longitudinal study of pediatric-onset multiple sclerosis in the Voronezh region]. / Prospektivnyi analiz klinicheskogo techeniya rasseyannogo skleroza s debyutom v detskom i podrostkovom vozraste v Voronezhskoi oblasti.

OBJECTIVE: To study the clinical course, the rate of progression and the results of the disease modifying treatment (DMT) in pediatric-onset multiple sclerosis (POMS) patients in the Voronezh region. MATERIAL AND METHODS: The clinical characteristics of the course of relapsing-remitting multiple sclerosis (MS) were analyzed among 51 POMS patients and 51 patients with the adult-onset MS (AOMS). The clinical course was assessed based on the Expanded Disability Status Scale (EDSS) score, the average annual frequency of exacerbations and the rate of disease progression before and during DMT. RESULTS: There were no statistically significant differences in EDSS scores 11 years after the onset of MS between the groups: POMS patients achieved moderate disability by the age of 25, and AOMS patients showed stabilization of their condition during DMT by the age of 36. During changing first-line drugs in patients with POMS, there was again an increase in disability with the transition of 25% of patients to the group with secondary progression of MS on average after 8 years of DMT. CONCLUSION: The onset of the disease in children and adolescents leads to a significant decrease in their quality of life and the deterioration of all activities throughout their lives. To prevent the progression of the disease it seems appropriate to transfer patients with POMS immediately to second-line DMT when signs of a suboptimal response to first line DMT appear, and in the case of a rapidly progressive course to start therapy with second-line drugs.