Purpose. The aim was to find predictors for ketogenic diet (KD) treatment effectiveness. In addition, recognized factors influencing the efficacy of KD were analyzed based on the ILAE (International League Against Epilepsy) proposed Classification and Definition of the Epilepsy Syndromes. Methods. A sample of 42 patients treated with KD were analyzed. The effectiveness of KD was assessed according to the type of diet, the type of seizures, and the known (KE) or undetermined genetic etiology (UNKE). The group of KE consisted of patients with CACNA1S, CHD2, DEPDC5, KIF1A, PIGN, SCN1A, SCN8A, SLC2A1, SYNGAP1 pathogenic variants. The usefulness of the new Classification and Definition of Epilepsy Syndromes proposed by the ILAE was evaluated. Results. KD therapy was effective in 69.05% of cases. No significant correlation was observed with the type of diet used. KE was related to greater effectiveness after KD treatment. KD treatment was most effective in the reduction of non-focal seizures. Considering the ILAE proposed classification, it was found that KD efficacy was higher in patients with simultaneous focal and tonic-clonic seizures compared to patients with only tonic-clonic or focal seizures. Conclusion. The occurrence of focal seizures does not determine the potential ineffectiveness of treatment with a ketogenic diet. A significant efficacy of ketogenic diet treatment was observed in the group of patients with focal and generalized seizures, as well as epileptic and developmental encephalopathies. The etiology of epileptic seizures plays a more significant role. The new classification will make it easier to select patients who can benefit from this form of treatment.

Introduction. Various neurological symptoms have been confirmed in the course of SARS-CoV-2 infection. Some of these are undoubtedly the aftermath of the developing inflammation and increased coagulation processes. However, there is also a group of symptoms that derive from possible autoimmune processes. These include primary hyperkinetic movement disorders such as myoclonus, ataxia, opsoclonus, and tremors. This study systematically reviews scientific reports presenting patients with hyperkinetic movement disorders as one of the neurological symptoms. Material and methods. The available literature was systematically reviewed as per the recommendations of Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). The PubMed database was used in the range from 1 April, 2020, to 31 July, 2021. Results. The PubMed database search identified 102 cases of patients with SARS-CoV-2 infection who developed hyperkinetic movement disorders. After excluding patients undergoing mechanical ventilation (n = 46) and a few other cases (n = 7), a group of 49 non-intubated patients was obtained. The mean age of the patients was 57.92 years, and 75.51% of the patients were male. The most common hyperkinetic movement disorders were ataxia (83.67%), myoclonus (67.35%), and tremor (30.61%). Symptoms appeared on average within two weeks of the first symptoms of infection. Most patients had symptoms significantly reduced or withdrawn (67.44%) or early partial improvement (30.23%). Conclusions. Based on the meta-analysis, it can be concluded that hyperkinetic movement disorders in the course of SARS-CoV-2 infection are an early symptom with a potential autoimmune background. They have a good prognosis with the applied treatment. Further observations are needed to determine their frequency and the most effective methods of treatment. Introduction. Various neurological symptoms have been confirmed in the course of SARS-CoV-2 infection. Some of these are undoubtedly the aftermath of the developing inflammation and increased coagulation processes. However, there is also a group of symptoms that derive from possible autoimmune processes. These include primary hyperkinetic movement disorders such as myoclonus, ataxia, opsoclonus, and tremors. This study systematically reviews scientific reports presenting patients with hyperkinetic movement disorders as one of the neurological symptoms. Material and methods. The available literature was systematically reviewed as per the recommendations of Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). The PubMed database was used in the range from 1 April, 2020, to 31 July, 2021. Results. The PubMed database search identified 102 cases of patients with SARS-CoV-2 infection who developed hyperkinetic movement disorders. After excluding patients undergoing mechanical ventilation (n = 46) and a few other cases (n = 7), a group of 49 non-intubated patients was obtained. The mean age of the patients was 57.92 years, and 75.51% of the patients were male. The most common hyperkinetic movement disorders were ataxia (83.67%), myoclonus (67.35%), and tremor (30.61%). Symptoms appeared on average within two weeks of the first symptoms of infection. Most patients had symptoms significantly reduced or withdrawn (67.44%) or early partial improvement (30.23%). Conclusions. Based on the meta-analysis, it can be concluded that hyperkinetic movement disorders in the course of SARS-CoV-2 infection are an early symptom with a potential autoimmune background. They have a good prognosis with the applied treatment. Further observations are needed to determine their frequency and the most effective methods of treatment.

NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of hypotonia and apnea episodes requiring resuscitation. For this reason, treatment with pyridostigmine was introduced. After starting the treatment, a significant improvement was observed in reducing the apnea episodes and slight psychomotor progress. In the course of further diagnostics, CMS was excluded, and CLIFAHDD syndrome was confirmed. Thus, we try to explain a possible mechanism of clinical improvement after the introduction of treatment with pyridostigmine in a patient with a mutation in the NALCN gene.

Purpose: The first-time psychotic incident is a diagnostic challenge due to the lack of definite tests that initially verify the underlying cause. Differential diagnosis should include autoimmune encephalitis with anti-NMDA receptors antibodies (NMDARE). The waiting time for the antibodies determination, being the only method of confirmation, may exceed several days. The article presents the capability of electroencephalographic study (EEG) to strengthen the NMDARE suspicion. Case description: In a 19-year-old healthy woman sudden behavioural changes occurred. Initially, psychotic episode was diagnosed. Severity of the symptoms and no reaction to the treatment determined further diagnostics. Based on clinical symptoms and EEG, NMDARE was diagnosed and adequate treatment initiated. Antibody assay confirmed this diagnosis. Comment: The presence of extreme delta brush in the EEG with the clinical suspicion of NMDARE allows to accelerate therapy in anticipation of antibodies determination. The EEG can be a valuable diagnostic tool for differential diagnosis, especially in the first psychotic episode.