Idiopathic intracranial hypertension. Case report and literature review

We report a clinical case of 11 year old patient presenting with dizziness, diplopia, and blurred vision. The patient did not have headache. Ophthalmologic examination revealed papilledema in both eyes, lumbar puncture showed an increased intracranial pressure, magnetic resonance imaging and angiography identified no structural cerebral lesions, only optic disc bulging in both eyes. The patient had one risk factor – overweight; puberty had not yet begun. She was administered dehydrating medical therapy of acetazolamide and mannitol. With pharmacological treatment not being effective enough, ventriculoperitoneal shunting operation was performed, after which symptoms of intracranial hypertension disappeared. After one year of follow-up, the patient reported no symptoms of intracranial hypertension, she did not experience any complications with the shunt; however, thinning of retinal nerve fiber layer and optic nerve atrophy was found in both eyes and a severe decline of visual function in one eye. Idiopathic intracranial hypertension is rare among children and can have a less distinct clinical presentation. Therefore, it is necessary to have this in mind even when the patient is presenting with less specific intracranial hypertension symptoms. In the case of declining visual function, urgent surgical treatment is required to preserve vision. Ventriculoperitoneal shunting is effective in managing symptoms of intracranial hypertension, however, in some cases visual function keeps declining

Use of cognitive enhancers among medical students in Lithuania

Aims - The purpose of this study is to analyse the use of cognitive enhancers among medical students in Lithuania, determine the reasons for usage and evaluate the contributing factors such as socio-demographic characteristics, stress levels, sleep quality and knowing somebody who has used a neuro-enhancing drug. Design A cross-sectional survey study was performed by analysing a convenience sample of n=579 in the two universities offering medical education in Lithuania, Vilnius University and the Lithuanian University of Health Sciences. In 2014, students were asked to fill in anonymous paper questionnaires consisting of 13 items on prevalence of substance use to enhance cognitive performance, and on reasons and correlates (response rate 95%) during lecture time. Results - Of the respondents, 8.1% indicated that they had used cognitive enhancers. Among those who had used these drugs, nootropics were the most frequently mentioned (59.6%), while psychostimulants, such as modafinil, methylphenidate and amphetamine-derived drugs were mentioned less frequently (38.3%). Other substances were indicated by 23.4% of the respondents. Improvement of concentration and increased studying time were predominant purposes (55.3% and 48.9% of users, respectively). Male students reported three times higher prevalence rates than females (14.6% vs. 5.1%, p<0.05). Prevalence was also higher in students who knew someone using these substances than among those who did not know such persons (17.3% vs. 5.1%, p<0.05). This was the most associated factor with cognitive-enhancing drug-taking behaviour. No correlation between cognitive enhancement usage and sleep quality or stress levels was found, nor between usage and belonging to a student organisation or having a job. Conclusions - In Lithuania, 1 of 12 medical students admits to having used neuro-enhancing drugs. Our study results provide an overview of the actual situation on correlates and reasons for taking performance-enhancing substances

Corpus callosotomy for treatment of pediatric epilepsy: two clinical cases and a literature review

Epilepsy is one of the most common chronic diseases in children and it affects approximately 6.1 per 1000 children in Lithuania as of 2018 data. The onset of epilepsy most often develops in children and older adults. The condition of epilepsy may be traced to various factors and seizure symptoms can vary widely. Controlled seizures are the main goal of epilepsy management. Children with uncontrolled seizures may develop speech, language, cognitive and behavioral dysfunction epileptic encephalopathies. Effective management of epilepsy in children not only improves condition of health, but also reduces social exclusion and helps integrate into educational activities. However, even if the disease is diagnosed early and appropriate antiepileptic drug therapy is prescribed, epileptic seizures persist in 20-40% of patients. For some of these patients, surgical treatment of epilepsy, such as resection or palliative surgery, may be effective in reducing seizures. Resection of a localized epileptogenic focus is an effective treatment for appropriate refractory cases. However, not all patients are candidates for the resection, for example, in the case of multifocal or rapidly generalizing seizures without a clearly identified epileptogenic focus. One of the most effective treatment for refractory epilepsy is corpus callosotomy. The corpus callosum is the most important pathway for the spread of epileptic activity between the two hemispheres of the brain. Its cutting precludes epileptic discharges from traveling between hemispheres (i.e., generalization). Overall, long-term follow-up studies after callosotomy have shown improvement in 80-90% of patients (seizure-free or reduction). The paper describes two pediatric patients treated in Vilnius University Hospital Santara Clinics, Department of Pediatric Neurology and Neurosurgery, who underwent a corpus callosotomy, and compares the outcome of these clinical cases with the results of recent clinical trials

Autoantikūnų prieš mielino oligodendrocitų glikoproteiną sukeltų ligų ypatumai vaikams: ryšys su optiniu neuritu ir lyčių skirtumai

Summary. Background and aim. Despite the increasing clinical data on anti-myelin oligodendrocyte glycoprotein (anti-MOG)-associated inflammatory demyelinating dis- eases, there are many un answered questions. This article aims to elu cidate the peculiarities of clinical presentation, association with optic neuritis (ON), relapsing course, investigations, treatment, and gender differences in pediatric anti-MOG-related disorders. Methods. The study involved 51 patients: 46 patients described in publications and 5 pa- tients treated in Vilnius University Hospital Santaros klinikos Pediatrics Centre between 2017 and 2020. Result. Acute disseminated encephalomyelitis (ADEM) was the most common (61%) clinical syndrome as the first presentation in anti-MOG-associated inflammatory demyelinating diseases in children. ON was present in 23.5% of patients at the beginning of the disease. 49% of chil dren had relapses. ON was present in 49% of patients during the course of the relapsing anti-MOG spectrum disease. There was a statistically significant dif- ference in relapse rate between the patients with and without ON during the course of illness – relapses occurred in 72% of patients with ON and 27% of patients without ON. We found a statistically significant gender difference – girls were more likely to relapse than boys, regard- less of the presence of ON. 76% of patients reached full recovery during the follow-up period. Conclusions. For the first time, the disease usually presents as acute disseminating encephalomyelitis. About half of children with myelin-oligodendrocyte glycoprotein spec- trum disease experience recurrence of the disease and ON. Girls are significantly more likely to relapse than boys. Children with ON have a higher risk of the disease recurrence

Behavioral problems in children with benign childhood epilepsy with centrotemporal spikes treated and untreated with antiepileptic drugs

The aim of this study was to investigate behavioral problems in two groups of children with benign childhood epilepsy with centrotemporal spikes (BECTS), i.e. those treated with antiepileptic drugs and those not treated in order to identify the factors associated with behavioral problems. Material and Methods. In total, 20 newly diagnosed untreated, 23 treated patients with BECTS, and 20 patients with acute/subacute peripheral nervous system disorders as a comparison group (aged 6-11 years) were examined. The evaluation was performed using the Lithuanian version of the Child Behavior Checklist (CBCL). Schooling parameters, clinical parameters, EEG parameters, and their relation to the results of the CBCL were also investigated. Results. The treated patients with BECTS had significantly higher scores in the subscales of Social Problems, Anxious/Depressed, Aggressive Behavior, and Attention Problems compared with the scores of the patients with peripheral nervous system disorders. A significant relationship was established between the scores of native language grades and Attention Problems; grades in mathematics and treatment duration; and age when the first seizure occurred and Delinquent Behavior in the group of treated patients. The duration of epilepsy was positively correlated with the scores in the subscales of Withdrawn and Delinquent Behavior. The presence of additional extrarolandic focus and spread of focal specific discharges to the centrofrontotemporal and centroparietotemporal areas were related to higher scores in Social Problems, Attention Problems, and Delinquent Behavior in the group of the treated patients with BECTS. Children with BECTS, especially those treated and with a longer epilepsy course, were found to be at risk of behavioral problems. Lower grades were associated with a longer disease course and medications. The presence of extrarolandic discharges was related to higher CBCL scores in the group of the treated patients with BECTS

Anti-N-methyl-d-aspartate receptor encephalitis and positive human herpesvirus-7 deoxyribonucleic acid in cerebrospinal fluid: a case report

Background: Anti-N-methyl-d-aspartate receptor encephalitis is a neuroautoimmune syndrome typically presenting with seizures, psychiatric symptoms, and autonomic dysfunction. Human herpesvirus-7 is often found with human herpesvirus-6 and infects leukocytes such as T-cells, monocytes–macrophages, epithelial cells, and central nervous system cells. The pathogenicity of human herpesvirus-7 is unclear. Cases of anti-N-methyl-d-aspartate receptor encephalitis with human herpesvirus-7 present in cerebrospinal fluid have been documented, but the clinical significance of this finding remains unclear. Case presentation: An 11-year-old Caucasian boy was admitted to hospital after a generalized tonic–clonic seizure. Generalized tonic seizures repeated three more times during the day of hospitalization. Blood tests showed minor ongoing inflammation, while brain computed tomography yielded normal results. Brain magnetic resonance imaging showed hyperintense focal alterations in both temporal lobes, hippocampi, and at the base of the right frontal lobe. Positive anti-N-methyl-d-aspartate receptor antibodies were found in both serum and cerebrospinal fluid. Positive novel coronavirus 2 (severe acute respiratory syndrome coronavirus 2) immunoglobulin G antibodies were found in serum. Polymerase chain reaction test for severe acute respiratory syndrome coronavirus 2 was negative. Furthermore, positive human herpesvirus-7 deoxyribonucleic acid was found in cerebrospinal fluid. The patient was treated with acyclovir, human immunoglobulin, and methylprednisolone. The seizures did not repeat, and no psychiatric symptoms were present. The patient made a full recovery. Conclusions: We present a pediatric case of anti-N-methyl-d-aspartate receptor encephalitis with atypical clinical presentation. The role of human herpesvirus-7 in neurological disorders remains unclear in immunocompetent patients

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation

Background and Objectives: Pathogenic variants of PIGN are a known cause of multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Many affected individuals have clinical features overlapping with Fryns syndrome and are mainly characterised by developmental delay, congenital anomalies, hypotonia, seizures, and specific minor facial anomalies. This study investigates the clinical and molecular data of three individuals from two unrelated families, the clinical features of which were consistent with a diagnosis of MCAHS1. Materials and Methods: Next-generation sequencing (NGS) technology was used to identify the changes in the DNA sequence. Sanger sequencing of gDNA of probands and their parents was used for validation and segregation analysis. Bioinformatics tools were used to investigate the consequences of pathogenic or likely pathogenic PIGN variants at the protein sequence and structure level. Results: The analysis of NGS data and segregation analysis revealed a compound heterozygous NM_176787.5:c.[1942G&gt;T];[1247_1251del] PIGN genotype in family 1 and NG_033144.1(NM_176787.5):c.[932T&gt;G];[1674+1G&gt;C] PIGN genotype in family 2. In silico, c.1942G&gt;T (p.(Glu648Ter)), c.1247_1251del (p.(Glu416GlyfsTer22)), and c.1674+1G&gt;C (p.(Glu525AspfsTer68)) variants are predicted to result in a premature termination codon that leads to truncated and functionally disrupted protein causing the phenotype of MCAHS1 in the affected individuals. Conclusions: PIGN-related disease represents a wide spectrum of phenotypic features, making clinical diagnosis inaccurate and complicated. The genetic testing of every individual with this phenotype provides new insights into the origin and development of the disease