Early treatment in spinal muscular atrophy is widely recognized as critical for improving neurologic and respiratory outcomes, especially in presymptomatic infants. With the expansion of newborn screening, more infants are now diagnosed presymptomatically. Currently, there are no established treatment guidelines for preterm infants with spinal muscular atrophy, with only anecdotal reports available. Additionally, there is limited knowledge regarding the safety and efficacy of the different treatments in preterm infants. In Israel, although a newborn screening program for spinal muscular atrophy is not yet implemented, a significant portion of the population participates in genetic carrier screening. Here, we present a case of presymptomatic preterm twins, born at gestational age of 32 + 2 weeks, birth weights of 1855 and 1740 g, respectively. They were treated with risdiplam followed by onasemnogene abeparvovec at a gestational age of 35 and 43 weeks, respectively. This case adds to the limited data on treatment options for preterm infants.

Vitamin B deficiency is a well-known cause of neurologic symptoms, prompting routine measurement in patients with neurologic conditions. However, elevated B levels are also observed in some cases. Recent studies suggest a potential link between high B levels and neurologic or neurodevelopmental disorders. This study aims to evaluate vitamin B levels in children with neurologic disorders compared with those in general pediatric populations. This single-center retrospective study analyzed pediatric patients' vitamin B levels between 2000 and 2023. Exclusion criteria included incomplete data and vitamin supplementation. Patients were grouped based on B levels (<200 pg/mL, 201-660 pg/mL, 661-1000 pg/mL, > 1000 pg/mL). Age, gender, and diagnoses were assessed, focusing on patients with elevated B levels (>660 pg/mL) in the neurology clinic. Vitamin B levels were measured using Roche Cobas e 601 analyzers. Over 3 years, 4142 pediatric clinic and 2638 pediatric neurology patients were reviewed. Elevated B levels were more frequent in the neurology clinic. Patients with elevated B levels (n = 338) had a mean age of 8.67 months and a mean B level of 894.7 pg/mL. Of 137 patients with follow-up B measurements, 40.1% normalized, while 17.5% remained > 1000 pg/mL. The most common diagnosis in patients with persistently high B levels was epilepsy, followed by prematurity, cerebral palsy, autism, intellectual disability, and language delay. Elevated vitamin B levels were associated with pediatric neurologic disorders, particularly epilepsy. Further research is needed to clarify the mechanisms and clinical implications of this finding.

The indication for endoscopic third ventriculostomy is often contested in children younger than 1 year. This study aims to establish the benefits of this modality in children with idiopathic congenital aqueductal stenosis.

Myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently defined demyelinating disorder with an age-related phenotypic spectrum. At disease onset, there is considerable clinical overlap between MOGAD and other demyelinating conditions, and it remains difficult to identify MOGAD radiographically. This study aims to further describe neuroimaging findings in the brain and the spine at presentation and throughout relapses in children with MOGAD.

The thalamus is critical for the relay and modulation of visual information. As such, injury to the developing thalamus may result in cerebral visual impairment (CVI). This study investigated quantitative volume reductions of the thalamus in cerebral visual impairment compared to controls and probed the association between thalamic volume and the severity of cerebral visual impairment-related visual dysfunctions. Thalamic volumes were quantified using T1-weighted magnetic resonance imaging (MRI) data from 23 participants with cerebral visual impairment and 42 controls. Nineteen participants with cerebral visual impairment also completed the CVI Questionnaire. Cerebral visual impairment was associated with significant volume reductions of the global thalami, anterior, lateral, and ventral thalamic regions, as well as several nuclei, particularly in those with cerebral visual impairment due to periventricular leukomalacia. Within the cerebral visual impairment group, smaller volumes of the right thalamus and lateral pulvinar were significantly associated with more reported difficulties moving through space. Together, these results provide empirical evidence supporting aberrant thalamic development as a potential mechanism underlying cerebral visual impairment.

We aimed to evaluate the relationship between attack frequency and severity and serum levels of micronutrient in pediatric migraine patients.

Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. , located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the mutations are associated with Leigh syndrome and complex I defects. Complex I deficiency typically manifests as bilateral brainstem lesions and presents with dystonia, hypotonia, and optic nerve damage. This article discusses a patient with an mutation resembling neuromyelitis optica spectrum disorder clinically and radiologically, highlighting the importance of considering mutations in dystonia and optic neuritis diagnoses, particularly in neuromyelitis optica spectrum disorder cases that do not respond to standard treatments. Further research on variants is needed for a better understanding of their phenotypic spectrum and to enhance diagnostic accuracy.

Posttraumatic headache is common in pediatrics. Studies have examined treatment of postconcussion symptoms, but few target posttraumatic headache. Biofeedback therapy has been studied in children and teens with primary headaches, but not posttraumatic headache. Our goal was to examine the changes in posttraumatic headache associated with biofeedback therapy in pediatric patients.

We present the case of a 15-year-old girl with new-onset psychosis and abnormal white matter activity on neuroimaging, engaging multidisciplinary care between genetics, neurology, psychiatry, and neuropsychology. She functioned well in mainstream education despite below average intellectual functioning. Physical examination findings enabled the diagnosis, and patient improved with joint psychological and behavioral outpatient services.

Persistent cortical deafness in the pediatric population is rarely reported, and there is limited information on its implications for early intervention.

This review evaluated the correlation between inflammatory response and clinical outcomes in pediatric patients with meningitis. PubMed, Scopus, and Web of Science were searched for relevant studies published until March 2024. A total of 139 articles were identified; 7 studies were eligible, and 3 provided data for the meta-analysis. All included articles comprised one of the following cohorts: children with bacterial meningitis, those with aseptic meningitis, or febrile children without evidence of central nervous system infection. The following cytokines and chemocytokines were assessed: interleukin IL-1β, IL-6, IL-17, tumor necrosis factor-alpha, and transforming growth factor-beta 1. Studies on children with bacterial meningitis confirmed by culture found that acute complications and neurologic sequelae were associated with higher concentrations of IL-1β, IL-6, and IL-17. Although this review could not definitively correlate individual inflammatory responses with the prognosis of children with central nervous system infections, IL-6 from cerebrospinal fluid may potentially predict the prognosis of children with bacterial meningitis.

Although many reports have described the characteristics of Williams-Beuren syndrome, few specifically analyzed epilepsy in patients with Williams-Beuren syndrome. In this retrospective study, we map the prevalence, types, and prognosis of epileptic seizures in a large cohort of 589 patients with Williams-Beuren syndrome, as well as associations between deletions of the membrane-associated guanylate kinase inverted-2-gene (2 gene), which is associated with infantile spasms (IS), and epilepsy in patients with Williams-Beuren syndrome.Our findings indicate that the incidence of epilepsy in patients with Williams-Beuren syndrome is approximately 1.02% (6 in 589), and is thus not higher than the incidence in the general population (0.5%-1.0%). West syndrome emerged as the most common epileptic syndrome in patients with Williams-Beuren syndrome (4 of 6) and typically has a favorable prognosis. There was no genotype-phenotype correlation between 2 deletions and West syndrome in this cohort.

Atypical teratoid/rhabdoid tumor (AT/RT) is a kind of central nervous system malignant tumor in children. In this study, we aimed to develop a practically clinical nomogram and risk grouping system to predict 1-year overall survival for patients with atypical teratoid/rhabdoid tumor.

Few studies have explored the efficacy of laser interstitial thermal therapy in pediatric epilepsy surgery. This study aims to evaluate seizure-free outcomes in children and adolescents with mesial temporal lobe epilepsy who underwent laser interstitial thermal therapy.

Neurosarcoidosis is a rare chronic inflammatory disease affecting the nervous system. Owing to its varying manifestations that can mimic other central nervous system infectious or autoimmune diseases, and scarcity of literature, it proves to be a challenging diagnosis. We report two cases of possible neurosarcoidosis in the pediatric age group. Our first patient presented to us with seizures at the age of 13 years, whereas our second patient presented with headaches and vomiting at the age of 10 years. Both patients had elevated cerebrospinal fluid protein levels and leptomeningeal enhancement on magnetic resonance imaging (MRI); however, one patient also had a pituitary lesion. Tests for tuberculosis were negative for both. One of the 2 patients exhibited normal angiotensin-converting enzyme levels at the start of symptoms but later showed raised angiotensin-converting enzyme levels. His diagnosis was delayed as he was treated initially for central nervous system infections. His disease course showed frequent relapses with varying clinical symptoms. After trying steroids and different immunosuppressive agents, he was given a rituximab infusion, and he went into remission. Our cases contribute to the literature for addressing diagnostic and management challenges in children with neurosarcoidosis.

Cardiac catheterization in children with heart disease is associated with an increased risk of arterial ischemic stroke. We created and evaluated the diagnostic performance of a bedside screening tool administered postprocedure to identify arterial ischemic stroke.

Given the centrality of school to the lives of the more than 450 000 US children living with epilepsy, their interface with schools related to medical and educational needs is critical. This qualitative study explores parental experiences with school systems for the care and education of their children with epilepsy. Two 90-minute focus groups were empaneled with a total of 11 caregivers of children with epilepsy. Facilitators, moderators, and recorders of each group performed semistructured interviews prompting discussion of families' experiences. Conversations were audio recorded, deidentified, transcribed, and coded. Five central themes emerged: Lack of School Resources (46), Lack of School Support (36), Customized Educational Support Plans (32), Academic Impacts (24), and Positive School Support (22). Families demonstrated a lack of awareness of resources available for their children and reported using other families, advocacy groups, health teams, and others to help. Some participants felt burdened as their child's sole advocate through their educational journey, including educating staff on epilepsy care and fighting for individual educational plans or supplemental resources. Families described global adverse effects of their child's epilepsy on family function related to finances/work, relationships, and sibling depression/anxiety, as well as inconsistent staff education to support students with epilepsy and variable staffing. Families of children with epilepsy face barriers that inform potential areas of improvement within schools. Closer interface between the medical community and educational systems may bridge gaps to ease the burden on families of children with epilepsy.

Developmental Coordination Disorder (DCD) is a neurodevelopmental condition presenting with poor motor skill development and impaired coordination at a young age. To diagnose DCD, neurologic conditions explanatory for the phenotype, including structural brain abnormalities like hydrocephalus, must be first ruled out. However, these neurologic conditions may phenotypically mimic DCD, which can hamper their distinction. In this article, we report a patient in whom the initial diagnosis of DCD was withdrawn after the identification of acquired hydrocephalus. An important cue in this case was secondary macrocephaly (from +0.00 to +2.25 standard deviations over approximately 6 years' time). This case illustrates that, in children whose phenotypes seemingly fulfill the DCD criteria, it is important to rule out an underlying, treatable etiology before making the diagnosis of DCD. Since few structural brain abnormalities mimicking DCD may present with macrocephaly, including hydrocephalus, performing longitudinal head circumference measurements can be useful to timely identify these neurologic conditions.

Autoimmune diseases are a heterogeneous group resulting from dysregulation or dysfunction of the immune system due to genetic predisposition and environmental triggers. It is common for these diseases to coexist. However, except for a single case secondary to varicella zoster virus infection, the association between juvenile idiopathic arthritis and acute cerebellitis has not been reported in the literature. A 9-year-old girl with juvenile idiopathic arthritis, initially presenting with symptoms of headache, nausea and vomiting, was diagnosed with diffuse bihemispheric acute cerebellitis by magnetic resonance imaging (MRI). Various tests were performed to determine the etiology of the disease. Infectious, metabolic, and autoimmune causes were excluded. This case report illustrates an ultra-rare association between juvenile idiopathic arthritis and acute cerebellitis, with a successful outcome following treatment and monitoring. There are 17 children, including our patient, who were followed with juvenile idiopathic arthritis and were found to have central nervous system disorders in the literature. Cerebral vasculitis and optic neuritis were the most commonly diagnosed neurologic disorders. Biologic agents have been implicated in some cases of optic neuritis and aseptic meningitis. Prompt treatment with corticosteroids and discontinuation of suspected biologic agents leads to favorable outcomes. This literature review highlights that early diagnosis and intervention can significantly improve outcomes.

We examined the association between social determinants of health and the likelihood of sustaining a concussion among adolescents. Participants in this cross-sectional study were 7164 high school students who completed the 2021 Adolescent Behaviors and Experiences Survey (52.7% girls; mean age = 16.0 years, SD = 1.2; age range 12-18 years). Logistic regression was used to determine which social determinants of health variables were associated with a self-reported history of concussion from playing a sport or being physically active over the past year. One in 10 adolescents (n = 716; 10.0% total; 11.8% of boys, 8.3% of girls) reported sustaining a concussion during the past year. Seven of 10 adolescents (70.3%) reported experiencing at least 1 of 8 negative social determinants of health. A multivariable logistic regression was statistically significant ( < .001), indicating that the negative social determinants of health were associated with having sustained a concussion during the past year; the model explained 12.5% (Nagelkerke ) of the variance in concussion. Controlling for all other predictors, sports participation (odds ratio [OR] = 3.72, medium effect), housing instability (OR = 3.25, small-medium effect) and limited English language proficiency (OR = 3.05, small-medium effect) were the strongest independent predictors of sustaining concussion within the past year. Adolescents who lived in a neighborhood where there is violence (OR = 1.78, small effect), who were bullied (OR = 1.57, very small effect), and who experienced food insecurity (OR = 1.36, very small effect) were more likely to have sustained a concussion. Research is needed to understand the nature of these determinant-injury associations. Whether social determinants of health are associated with specific treatment and rehabilitation needs, and time to recover following concussion, should be examined with prospective studies.