Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. The genetically characterized mitochondrial disorders are rarely associated with epileptic encephalopathies. Case presentation: We present the clinical phenotype, biochemical analysis, and electrographic and neuro-radiological features of a 5-month-old girl with epileptic encephalopathy, microcephaly, severe psychomotor delay, hypertrophic cardiomyopathy, and abnormal MRI scan. Using whole-genome sequencing technique, compound heterozygous mutations of the VARS2 gene were revealed, with one previously unreported frameshift mutation. Conclusion: Our report extends the phenotypic spectrum of VARS2-related disorders with an initial presentation of epileptic encephalopathy and early death due to malignant arrhythmia.

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symptoms and 5 rashes that have not developed systemic signs (therapy was suspended). Lamotrigine is a well established antiepileptic known to be responsible for hypersensitivity reactions manifested through skin reactions. These kinds of ADRs are potentially life threatening if not recognized on time. The objective was to analyze and identify risk factors in cases of severe skin rashes associated with lamotrigine therapy. Participants, Materials/Methods: Review of collected ADRs from Agency's database by the keyword lamotrigine and evaluation of these reports. Results: Review of three cases of severe skin rashes caused by lamotrigine. Case 1: 16-year-old patient within few weeks of combined therapy with lamotrigine 75 mg and valproate 450 mg daily experienced febrile reaction, exfoliative rash, had difficulties swallowing, sore throat and generalized maculopapular rash. At the same time, Beta Hemolytic Streptococcus (BHS) was isolated and he received benzatin-fenoxymetil penicillin, antihistamines and corticosteroids but progression of symptoms continued. Lamotrigine was discontinued, patient recovered. Case 2: 4-year-old infant started receiving 10 mg lamotrigine daily with valproate 45 mg and clonazepam 1 g as a standard therapy. Twenty days afterwards mononucleosis like symptoms, maculopapular rash, enlarged spleen and lymph nodes along with high fever (40°C) developed. Lamotrigin was discontinued and patient recovered within 3 days. Case 3: 14-year-old female patient received valproate 750 mg. Within 43 days of receiving concomitant lamotrigine 25 mg daily she experienced vulval redness and itching, diarrhea and rash indicating systemic hypersensitivity reaction. Reaction ceased upon discontinuation of lamotrigine. Conclusions: In the presented cases we identified the cause of the severe ADRs as a result of given risk factors: too high dose, pediatric patients, interaction with valproate, drug-induced rash not recognized due to BHS infection respectively. The severity of rash in the reviewed cases and development of more severe symptoms has usually been related to duration of exposure to lamotrigine and it is not possible to predict reliably which rashes will prove to be serious or life threatening. That is why lamotrigine should ordinarily be discontinued at first signs of rash, unless the rash is clearly not drug related.Introduction/Objectives: Transient ischemic attack (TIA) is a medical emergency indicating unstable brain ischemia with high risk of imminent stroke and requires immediate assessment and treatment. The aim of this study is to analyze the possible etiological factors of carotid transient ischemic attacks. Participants, Materials/Methods: For the purpose of this study we use the traditional definition of TIA based on symptom duration and not on the presence of brain infraction on the brain imaging. During the 1-year period 108 patients (69 men and 39 women) were analyzed in Department of Neurology Clinical Hospital Center Rijeka. Results: Our results show a male predominance (male 64%, femal...

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Background: Schizophrenia is a severe illness whose clinical course is characterized by various numbers of psychotic episodes (PE). The neurotoxic hypothesis (NH) of schizophrenia assumes that psychosis is biologically toxic. The aim of the study was to investigate whether schizophrenia patients (SP) with multiple PE have greater grey matter volume (GMV) reduction compared to SP with fewer PE.Subjects and methods: We enrolled 106 adult SP and 63 healthy controls. Demographic and clinical data were collected and statistically analysed for all included subjects. Magnetic resonance imaging (MRI) of the brain was acquired on a 1.5 T scanner. SP were grouped according to the number of PE into a group with up to 3 PE (SCHG-1) and with 4 or more PE (SCHG-2). SCHG-1 was further subdivided into two groups regarding to disease duration (DD). Voxel based morphometry (VBM) analyses were performed between SP groups as well as between SP groups and the healthy controls group (HCG).Results: No relevant GMV differences were detected between SP groups. Comparison between HCG and SCHG-1 showed only 3 regions with reduced GMV, while multiple regions with reduced GMV were detected when comparing HCG and SCHG-2. Conclusions: GMV reduction in schizophrenia varies depending on the number of PE when compared to HCG, regardless of disease duration (DD), but PE is not the only contributing factor that leads to neurotoxicity.