The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain.

Cerebral cavernous malformations (CCMs) are relatively common in the central nervous system. They occur in two forms, sporadic and familial (FCCMs). Three genes are recognized to be associated with FCCM, including CCM1, CCM2, and CCM3, the latter also called PDCD10. In this article, we describe a single-nucleotide variant in the PDCD10 gene in a 23-year-old Polish female with CCM. The NM_007217.4 (PDCD10): c.395+1G>A variant destroys the canonical splice donor site following exon 6. This is the first reported genetically characterized case of CCM (FCCM) in Poland.

HYPERAMMONAEMIA AND COGNITIVE IMPAIRMENT IN EPILEPSY PATIENTS TREATED WITH VALPROIC ACID - PRELIMINARY STUDY.

OBJECTIVE: The aim: To determine whether VPA pharmacotherapy, mainly in the group of patients using subtherapeutic doses of VPA, could contribute to the occurrence of cognitive impairment. PATIENTS AND METHODS: Materials and methods: The study involved 14 patients: six women and eight men, aged 24 - 77 years (mean SD ± - 52.36±13.71) diagnosed with epilepsy in accordance with the ILAE criteria (International League Against Epilepsy), in whom the main clinical complaint, in addition to poor control of epileptic seizures, were impaired concentration, attention and memory impairment. RESULTS: Results: Mild cognitive impairment - MCI was diagnosed in 4 patients (28.57%) (3 with elevated ammonia levels, 1 without), in 1 patient (7.14%) there was a mild level of dementia. In only one MCI case, elevated serum concentrations of valproic acid were also recorded. It is very important to highlight that cognitive impairment has never been diagnosed before (prior to VPA therapy) in this group. Of these 5 patients, in four cases, after discontinuation of the drug, an improvement in the clinical condition was achieved. In a patient with mild level dementia, the termination of therapy did not give a similar effect. This proves the possibility of other mechanisms responsible for generating these sometimes irreversible disorders. CONCLUSION: Conclusions: Regardless of the dose and concentration of ammonia in blood serum of patients diagnosed with epilepsy, VPA therapy may cause various, significant dysfunctions that significantly impair quality of life.

4C Mortality Score correlates with in-hospital functional outcome after COVID-19-associated ischaemic stroke.

AIM OF THE STUDY: The 4C Mortality Score was created to predict mortality in hospitalised patients with COVID-19 and has to date been evaluated only in respiratory system disorders. The aim of this study was to investigate its application in patients with COVID-19-associated acute ischaemic stroke (AIS). CLINICAL RATIONALE FOR STUDY: COVID-19 is a risk factor for AIS. COVID-19-associated AIS results in higher mortality and worse functional outcome. Predictors of functional outcome in COVID-19-associated AIS are required. MATERIALS AND METHODS: This was a retrospective observational study of patients with AIS hospitalised in seven neurological wards in Malopolska Voivodship (Poland) between August and December 2020. We gathered data concerning the patients' age, sex, presence of cardiovascular risk factors, type of treatment received, and the presence of stroke-associated infections (including pneumonia, urinary tract infection and infection of unknown source). We calculated 4C Mortality Score at stroke onset, and investigated whether there was a correlation with neurological deficit measured using the National Health Institute Stroke Scale (NIHSS) and functional outcome assessed using the modified Rankin Scale (mRS) at discharge. RESULTS: The study included 52 patients with COVID-19-associated AIS. The 4C Mortality Score at stroke onset correlated with mRS (rs = 0.565, p < 0.01) at discharge. There was also a statistically significant difference in the mean 4C Mortality Score between patients who died and patients who survived the stroke (13.08 ± 2.71 vs. 9.85 ± 3.47, p = 0.04). CONCLUSIONS AND CLINICAL IMPLICATIONS: 4C Mortality Score predicts functional outcome at discharge in COVID-19-associated AIS patients.

A case of reversible aphasia-type speech disorders after treatment with quetiapine. / Odwracalna afazja po leczeniu kwetiapina ­ opis przypadku.

The study presents a case of a 64-year-old patient with diagnosed Parkinson's disease and coexisting REM sleep disorders (RBD) confirmed in a polysomnographic examination. In this patient, the use of supplementary therapy - quetiapine (50mg/daily) - due to psychotic disorders, resulted in speech disorders with sensory-motor mixed aphasia type. Aphasia occurred on the fourth day after beginning the treatment with atypical neuroleptic. In MRI examination of the head, no "fresh" cerebral ischemia was found. No focal status epilepticus was reported in the video EEG trial. Results. Complete cure occurred after discontinuation of quetiapine administration. Conclusions. Due to the above, the side-effects of quetiapine treatment were assumed as the cause of focal neurological disorders.

ARRHYTHMIA IN THE COURSE OF GENERALISED EPILEPSY OF UNKNOWN ETIOLOGY - A CASE STUDY.

OBJECTIVE: The aim: To draw attention to the need for careful analysis of patients with epilepsy in terms of the possibility of co-occurring arrhythmia. PATIENTS AND METHODS: Material and methods: Analysis of video-EEG registration in the inter-seizure period in a patient with diagnosed epilepsy. RESULTS: Case study: The authors present a 33-year-old patient with generalised epilepsy of unknown etiology diagnosed in childhood. In this subject, generalised seizure discharges without clinical manifestation of epileptic seizure and with concomitant cardiac arrhythmias in the form of atrial fibrillation were recorded during video-EEG registration. This was carried out during the patient's of hospitalisation at the neurology ward. CONCLUSION: Conclusions: The case study presented is as an example of existing complex and not fully understood interactions between epilepsy and arrhythmia. A mutation within the SCN1B encoding genes, which is responsible for channelopathy within the voltage-dependent Nav sodium channels, may be considered as a potential cause for this state. However, further analysis and research is needed that would eventually allow to find out the reason for these relationships.