Alex Stephano Aguirre

Background/Objectives: To describe the clinical and genetic features of hemimegalencephaly in pediatric patients, and to highlight treatment outcomes in this population. Methods: This is a systematic literature review following PRISMA guidelines. We used PubMed, Google Scholar, and Scopus for this systematic literature review as databases. Clinical data, imaging findings, EEG patterns, genetic variants, associated syndromes and treatment modalities and outcomes were reviewed, analyzed and summarized in tables. A total of 161 pediatric patients with hemimegalencephaly are described. A risk of bias and sensitivity analysis was conducted. Results: Hemimegalencephaly is more frequently reported in males. The most common subtype was isolated hemimegalencephaly followed by the syndromic subtype, in particular the association with Ito’s hypomelanosis. The most common seizure type was focal onset with impaired awareness. Genetic analysis showed variants in TSC1, TSC2, NPRL3, and PIK3CA, supporting mTOR pathway involvement. Drug-resistant epilepsy was present in approximately 73.2% (118/161) of the sample size. Hemispherectomy, especially functional, in our sample was more frequently reported and the current limited available literature suggests potentially comparable seizure outcomes compared to anatomical hemispherectomy in terms of seizure reduction. Our biggest limitation is the lack of long-term neurological follow-up in the existing literature. Conclusions: Hemimegalencephaly presents with a wide clinical and genetic spectrum and frequently results in drug-resistant epilepsy and developmental impairment. Although surgery may offer seizure relief, outcomes vary and the optimal approach remains individualized. Early diagnosis is essential to enable timely intervention and coordinated care. A multidisciplinary team including neurology, genetics, radiology and neurosurgery is key to optimizing outcomes. Broader studies including milder cases and long follow-up are needed to fully understand disease progression and guide management.

Objective: To compare outcomes among children and youth (3-21 years) with post-concussion syndrome (PCS) who received early (≤8 days) embedded psychological intervention (EI) after the index visit with those who received usual care (UC) in a pediatric concussion program. Methods: Retrospective cohort study at the Boston Medical Center Concussion Clinic (2015-2024) including 56 patients (EI n = 28; UC n = 28). Outcomes were follow-up time and recovery status at last follow-up. Mann-Whitney U and Fisher exact tests were used, with effect sizes (| r | and odds ratio [OR]). Results: Follow-up time was shorter in EI ( P < .001; | r |=0.72). Recovery was higher in EI (57.1% vs 10.7%; OR 10.58, 95% CI 2.40-67.50; P = .005). Between-group differences persisted in a sensitivity analysis restricted to UC participants without major neurologic or neurodevelopmental complexity; the association with recovery remained significant after adjustment (aOR 10.14, 95% CI 1.25-226.95; P = .048). Conclusion: Early embedded psychological intervention was associated with improved recovery outcomes in pediatric PCS.

Introduction: Pediatric traumatic brain injuries arising from natural disasters pose a significant long-term risk, particularly in the vulnerable population of children in high-stress situations. We aimed to gain insights into this matter to increase its understanding and potentially address health disparities with evidence. Methods: We searched the 5 databases following Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines to identify publications discussing traumatic brain injuries in children in the context of natural disasters. Of 32,785 records, only 9 met criteria for inclusion. We extracted and analyzed clinical data relevant to our topic. Results: Traumatic brain injuries are one of the most prevalent injuries found in this pediatric population accountable for the major risk factor for morbidity and fatalities, followed by orthopedic injuries and infected wounds. Males and females were affected equally, with a mean age around 9.8 years. Mortality rates varied but were lower than 16%, contingent on the severity of the disaster and the level of preparedness of the affected area. Conclusions: Head injuries are one of the most prevalent pediatric injuries in disasters. However, there is limited evidence-based information regarding best strategies and care for children experiencing traumatic brain injuries in this context. This study suggests the need of a concerted effort to strengthen preparedness for natural disasters to ultimately foster a safer world for the children.

Background: The COVID-19 pandemic has prompted a transformation of medical training. Although there were obvious medical education and social interaction challenges, e-learning presented some advantages, which may have generated medical curricula innovation and adjustments to novel technological methodologies. This study aims to generate consensuses among medical students regarding medical education provided during the pandemic in the resource-limited context of a Global South university. Methods: The implementation of a participatory Delphi method included a recruitment campaign, training, constitution of Delphi panels and questions, and development of the Delphi exercises. Students from the second to the sixth year of medicine of a university in Quito, Ecuador, constituted two Delphi panels, developed questions about the education received during the pandemic, and answered them over 3.5 rounds. Findings: Twenty-two medical students participated in the Delphi exercises about their perception of medical education during the COVID-19 pandemic. The analysis consisted of a total of 22 Delphi questions divided into five distinct categories: adaptations and innovations, curriculum and assessment changes, virtual clinical practice, time management, and mental health. The authors established high, medium, and low consensuses for analysis. Conclusions: Consensuses were reached based on students’ academic year and focused on the changes in lecture delivery, the usage of new technologies, patient care skills, the impact of the educational routine, and the mental health of the COVID-19 pandemic. The way the pandemic affected medical education in the Global South set the stage for the need for a comprehensive review of tools, skills, and curricula for students from culturally diverse backgrounds. This study offers a highly replicable methodology to generate consensuses and introduce students to academic research.

In pediatric patients, an acute altered mental status refers to a sudden and significant change in a child's brain function and level of consciousness. It may manifest as confusion, disorientation, agitation, lethargy or even a loss of consciousness. This condition is a medical emergency, and requires immediate evaluation and attention. There are several causes of acute altered mental status in children, including infections of the central nervous system such as meningitis or encephalitis, traumatic brain injury, metabolic disorders, seizures and poisoning, among others. The aim of this study was to analyse, prepare and classify the current literature in order to determine the best recommendations for the treatment of cases of acute altered mental status with various causes in pediatric patients. The study was based on opinions from experts in the field in order to classify the recommendations, and was submitted to the scientific committee of the Iberoamerican Academy of Pediatric Neurology for review. Our guide is an aid for the treatment of this non-specific symptom based on a basic and advanced approach, which can be applied by any pediatric neurologist.

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a mitochondrial disease that lacks a definitive treatment. Lately, there has been an increased interest in the scientific community about the role of arginine in the short and long-term settings of the disease. We aim to conduct a systematic review of the clinical use of arginine in the management of MELAS and explore the role of arginine in the pathophysiology of the disease. We used PubMed advanced-strategy searches and only included full-text clinical trials on humans written in the English language. After applying the inclusion/exclusion criteria, four clinical trials were reviewed. We used the Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol for this systematic review. We used the Cochrane Collaboration risk-of-bias tool to assess the bias encountered in each study. Overall, IV arginine seems to be effective in improving symptoms during acute attacks of MELAS, while oral arginine supplementation increases endothelial function, preventing further stroke-like episodes.

Background: Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based on molecular analysis. However, developing countries have limitations in terms of accessibility to these tests. We aimed to assess the utility of imaging equipment, usually more available worldwide, to help diagnose and improve patients’ quality of life with these diseases. Methods: We performed a systematic literature review in English using the preferred reporting items for systematic reviews and meta-analyses (PRISMA) and meta-analysis of observational studies in epidemiology (MOOSE) protocols. We only used human clinical trials about dopamine responsive dystonia and juvenile parkinsonism patients in which a fluorodopa (FD) positron emission tomography (PET) scan was performed to identify its use in these diseases. Results: We included six studies that fulfilled our criteria. We found a clear pattern of decreased uptake in the putamen and caudate nucleus in JP cases. At the same time, the results in DRD were comparable to normal subjects, with only a slightly decreased marker uptake in the previously mentioned regions by the FD PET scan. Conclusions: We found a distinctive pattern for each of these diseases. Identifying these findings with FD PET scans can shorten the delay in making a definitive diagnosis when genetic testing is unavailable, a common scenario in developing countries.