Neurofibromatosis type 1 (NF1) is a multisystemic neurocutaneous disease caused by a heterozygous mutation of the gene that encodes neurofibromin. Complications include vascular and neurologic abnormalities such as moyamoya syndrome, a cerebrovascular disorder with progressive occlusion of the large intracranial arteries, leading to ischemic events and the formation of abnormal vascular networks. Stenosis of the renal artery is another frequent complication of neurofibromatosis type 1, and it represents the most common cause of secondary hypertension in these patients. The purpose of the article is to describe the clinical manifestations of neurofibromatosis type 1 vasculopathy in 4 patients presenting with a wide range of neurologic and reno-vascular manifestations, as well as to examine current diagnostic management and follow-up, current therapeutic options, and to discuss further perspectives in terms of screening, diagnosis, and treatment.

β-Propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked condition caused by pathogenic variants in the gene that result in a defect of autophagy. Classified as a disorder of neurodegeneration with brain iron accumulation, β-propeller protein-associated neurodegeneration is associated with severe neurologic impairments. With the anticipation of future therapeutic trials, this project characterizes the family's perspective of the impact of disease and defines Health Concepts (HC).Children with a molecularly confirmed diagnosis of β-propeller protein-associated neurodegeneration were enrolled in a prospective natural history study. We administered the Vineland Adaptive Behavior Scales-Third Edition and provided health-related quality of life questionnaires to 42 caregivers. Questionnaires included Pediatric Quality of Life Inventory-Generic Core and Pediatric Quality of Life Inventory-Family Impact modules, Caregiver Priorities and Child Health Index of Life with Disabilities, and Caregiver TBI-CareQoL.The Vineland Adaptive Behavior Scales-Third Edition (n = 42) captured the family's perspective that communication was more affected compared with socialization, activities of daily living (ADL), and motor skills ( < .0001,  < .0001,  = .0053, respectively). Similarly, on the Caregiver Priorities and Child Health Index of Life with Disabilities (n = 26), Pediatric Quality of Life Inventory-Generic Core (n = 27), CareQol (n = 26), and Pediatric Quality of Life Inventory-Family Impact (n = 27), communication abilities, as well as social functioning and activities of daily living, were noted to be most impacted.Through the use of standardized surveys and outcome assessments, we establish the effects of β-propeller protein-associated neurodegeneration on caregiver quality of life. Key health concepts identified by families included overall health, comfort, and communication. The identified HC will inform the future identification of concept of interest and selection of appropriate clinical outcome assessments through the administration of patient-reported outcomes.

RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy. 43 parents of 32 children completed questionnaires on demographics, stress, quality of life, coping mechanisms, and experience of injustice. Detailed clinical data was collected from all patients. Mothers ([27] = -8.66, < .001) and fathers (t[16] = -4.47, < .001) had lower quality of life scores compared to the normative population, yet 80% of parents' stress scores fell within the normal stress range. Parents' experience of injustice scores were high (>60). Correlations were found between and within parents' scores. Years since disease onset and certain life circumstances correlated to mothers' quality of life scores; however, no correlation was found between modifiable factors and fathers' quality of life scores. Helpful coping mechanisms included those that allowed parents to be involved in their child's life. This is the first study to assess stress and quality of life in this population. These results shed light on the importance of implementing services and social support to improve the well-being of parents.

Eslicarbazepine (ESL) is a once-daily, third-generation antiseizure medication for focal-onset seizures. The primary mechanism of action is enhancing the slow inactivation of voltage-gated sodium channels. The study objective was to review real-world experience regarding retention rate, efficacy, and tolerability of eslicarbazepine, soon after it became available for children in Canada.

Post COVID-19, caregivers of children with cerebral palsy in South Africa face unique challenges.

The standard treatment guidelines of neurocysticercosis have been described as per computed tomography (CT)-based studies. We aimed to prospectively study if posttreatment magnetic resonance imaging (MRI) clearance rates of neurocysticercosis were like those reported in literature using CT.

The aim of this retrospective descriptive study was to evaluate the clinical impact and safety profile of lacosamide in neonates with symptomatic refractory seizures.Patients diagnosed with symptomatic refractory seizures who received lacosamide were included in the study. Follow-up assessments were conducted until 24 months of age, during which data on lacosamide dosage, duration of exposure, concurrent treatments, and potential side effects were collected. A total of eight patients were enrolled, with lacosamide administered as a third- or fourth-line treatment for symptomatic refractory seizures. Following loading dose, 62.5% of the patients achieved complete remission of seizure activity without recurrence. In the remaining cases, a reduction in seizure frequency was observed. No adverse effects attributable to lacosamide were reported.In conclusion, lacosamide may be effective in achieving seizure remission in newborns with symptomatic refractory seizures, and all patients demonstrate excellent tolerance. Brief exposure to lacosamide was sufficient, and no adverse effects were observed up to 24 months of age. However, randomized controlled trials are necessary to confirm these findings.

Over recent years there has been a shift in clinical practice to support care delivery via telemedicine. This study aims to highlight the patient and provider experience of telemedicine over 2.5 years within a Canadian Pediatric Neurology clinic.

Leukodystrophies are a heterogeneous group of inherited neurologic disorders. These disorders are indeed progressive and debilitating conditions with limited treatment options and high mortality rates. There is a deficiency in available data concerning both the mortality rates and the most common causes of death in leukodystrophies. We investigated the mortality rates, mean age at death, and the most common causes of death in a retrospective cohort of 165 Iranian pediatric patients who were diagnosed with leukodystrophies. Death was recorded in 64 of 165 patients (38.8%) with a mean follow-up of 4.7 ± 3.25 years. The mean age of living patients was 7.9 ± 4.8 years and the mean age at death was 5.2 ± 3.9 years. Mortality rate of the entire cohort was 18.1% (30/165), 24.2% (40/165), and 35.7% (59/165) at 3, 5, and 10 years' follow-up, respectively. The mean age at death was 2.13 ± 0.68 years, 2.67 ± 1.14 years, and 4.33 ± 2.73 years, at 3-, 5-, and 10-year follow-up from first symptom onset, correspondingly. However, there was a significant difference in the mean age at death in years in hypomyelinating leukodystrophies compared with other leukodystrophies (2.19 0.19 standard error [SE], confidence interval [CI] 1.81-2.56; and 6.65 ± 0.62 SE (CI 5.42-7.87); log rank = .0001, analysis of variance = .0001). The most common causes of death were cardiopulmonary problems (47%), seizures (11%), sepsis (9%), and miscellaneous (33%). We proposed that a significant majority of childhood leukodystrophy deaths occur within the first 5 years of life, with a notable concentration during the initial 3 years. Further, the results of this study suggest the potential for targeted strategies to address the specific causes of death in children with leukodystrophies.

To describe electroencephalographic (EEG) changes in pediatric patients with cerebral edema after cardiac arrest.

Infections are hypothesized to trigger certain autoimmune diseases; however, there is a lack of epidemiologic data surrounding pediatric neuro-autoimmune disorders during the COVID-19 pandemic. Our retrospective study assessed the incidence of pre-defined autoimmune disorders diagnosed at the Children's Hospital of Eastern Ontario in Ottawa, Canada, between October 2017 and June 2024. Inpatient and outpatient charts were queried to identify subjects with neuro-autoimmune disorders or type 1 diabetes as a nonneurologic autoimmune comparison group. Monthly incidences were calculated and compared between 3 COVID-19 pandemic restriction periods: the prerestrictions period (October 2017-March 2020), intrarestrictions period (April 2020-June 2022), and postrestrictions period (July 2022-June 2024). Poisson regression models were fit to the incidence data. New diagnoses of neuro-autoimmune disorders and type 1 diabetes were identified in 111 and 670 subjects, respectively. Incidence of neuro-autoimmune disorders, but not type 1 diabetes, decreased during the intrarestrictions period when compared to the prerestrictions period (incidence rate ratio = 0.57, 95% confidence interval 0.33-0.95,  < .05).

The study aimed to investigate the clinical outcomes of fetuses diagnosed with isolated mega cisterna magna in utero. A multicenter retrospective cohort study was conducted across 18 university hospitals from 2010 to 2019. Cases diagnosed with isolated mega cisterna magna, defined as a cisterna magna >10 mm with a normal cerebellar vermis and no cystic dilation of the fourth ventricle, were included. Cases with other central nervous system (CNS) anomalies, extra-central nervous system anomalies, chromosomal abnormalities, or congenital infections were excluded. Maternal demographics, prenatal findings, delivery outcomes, and postnatal outcomes were analyzed. The mean gestational age at initial diagnosis was 28.6 ± 3.9 weeks, and the mean anteroposterior diameter of the cisterna magna was 12.5 ± 3.2 mm. Of the 71 cases initially assessed, 48 (67.6%) showed self-regression in utero. Postnatally, 13 cases (18.3%) had persistent isolated mega cisterna magna, whereas 10 cases (14.1%) were diagnosed with other central nervous system anomalies. Among the persistent isolated mega cisterna magna cases, one child exhibited delayed neurodevelopment. There was a higher incidence of isolated mega cisterna magna in male fetuses, which exhibited a significantly larger mean cisterna magna diameter compared with female fetuses ( = .045). Male fetuses exhibited a higher incidence of isolated mega cisterna magna compared with female fetuses and had larger anteroposterior diameters of the cisterna magna. The study demonstrated favorable neurodevelopmental outcomes associated with isolated mega cisterna magna, with self-regression observed in two-thirds of the cases. However, consecutive prenatal and postnatal evaluations for additional central nervous system or extra-central nervous system malformations need to be performed, considering the differences between prenatal and postnatal diagnoses.

This study aimed to investigate the effects of Video-Based Action Observation Training and Live Action Observation Training on motor function, activity participation, and secondary outcome measures in children with spastic diparetic cerebral palsy (CP).

Lyme disease is a tick-borne infectious disease caused by the spirochete . Voiding dysfunction is a rare manifestation of neuroborreliosis with only a few cases reported. Here we describe a case of a 6-year-old male child with an acute urinary retention, paraparesis, and voiding difficulty in whom neuroborreliosis was diagnosed through serologic tests for antibodies, Western blot testing confirmation and intrathecal antibody synthesis. Magnetic resonance imaging (MRI) of the spine led to the diagnosis of acute transverse myelitis and a urodynamic study demonstrated detrusor areflexia. He received a 4-week course of intravenous ceftriaxone (2 g/d). The patient has recovered from the paraparesis but still suffers from a neurogenic bladder.

This case report describes a rare instance of reflex seizures in a 4-year-old boy with a complex medical history, including total anomalous pulmonary venous connection and developmental disabilities. The patient experienced seizures triggered exclusively by a specific visual stimulus: the transition scene from the Disney castle to the Pixar lamp in Disney-Pixar movies. Video electroencephalography (EEG) revealed biparasagittal rhythmic delta waves and diffuse slowing, suggesting parietal involvement and complex cortical processing. The findings highlight the individualized nature of reflex epilepsy and highlight the need for a nuanced understanding of specific seizure triggers. Effective management included avoiding the identified visual stimulus and adjusting medication based on the patient's response. This case emphasizes the intricate relationship between sensory processing and epileptogenic mechanisms, contributing to our knowledge of cortical excitability and guiding targeted treatment strategies for reflex seizures.

Epilepsy surgery is vital in managing of children with drug-resistant epilepsy. Noninvasive and invasive testing modalities allow for evaluation and treatment of children with drug-resistant epilepsy. Evidence-based algorithms for this process do not exist. This study examines expert response to a vignette of pediatric nonlesional epilepsy to assess associations in evaluation and treatment choices.

Duchenne muscular dystrophy is a genetically based neuromuscular disorder characterized by progressive physical impairment and cardiomyopathy in children, leading to fatal cardiac or respiratory failure. Duchenne muscular dystrophy shares some overlapping clinical features with other disorders, complicating clinical differentiation. We hypothesized that some Duchenne muscular dystrophy patients may have a secondary neuromuscular disorders that could negatively skew data during pharmaceutical clinical trials and lead to incomplete treatment plans. Consecutive genetic panels on 353 patients were reviewed. Thirty-two (32; 9.1%) patients with Duchenne muscular dystrophy were identified. Three (3; 9.4%) were found to have at least 1 genetically confirmed secondary neuromuscular disorder. Overlooking these coexisting disorders could lead to unexpected treatment failures, potentially affecting medication efficacy in trials or commercial use. Secondary neuromuscular disorders should be considered in Duchenne muscular dystrophy patients before clinical trial enrollment or treatment planning, with expanded genetic testing, such as whole exome sequencing or whole genome sequencing, likely to reveal even more secondary disorders.

Vitamin D deficiency has been associated with headaches in adults, but data for children with headaches are sparse.

Children with cerebral palsy are considered to be a population at risk for the occurrence of sleep difficulties. However, existing literature has been limited by subjective measures of sleep and has failed to examine contributing factors. Forty-five youth with cerebral palsy participated. Both youth and caregivers completed sleep-related questionnaires, while youth completed daily actigraphy for objective sleep assessments Sleep patterns, including sleep duration, wake after sleep onset, and sleep efficiency, are generally aligned with existing sleep recommendations. However, the number of awakenings was significantly higher in youth with cerebral palsy compared to these recommendations. Most youth experienced poor sleep quality, and approximately a quarter experienced insomnia. Being a boy and having a preexisting mental health diagnosis was associated with poor sleep quality and greater insomnia symptoms. Most youth with cerebral palsy experience a range of sleep difficulties. This study provides new information on sleep patterns in youth with cerebral palsy, highlighting the importance of addressing sleep issues in this population to improve their well-being and ultimately limit the negative impacts on overall health and quality of life.

Neonatal seizures are associated with worsened neurodevelopmental outcomes. Phenobarbital, the only US Food and Drug Administration (FDA)-approved treatment for neonatal seizures, can cause neuronal apoptosis and may worsen neurodevelopmental outcomes. Lacosamide may be an efficacious treatment for neonatal seizures. We assessed the impact of lacosamide boluses on seizure burden in a retrospective cohort of 15 neonates monitored with video electroencephalography (EEG). Medication bolus times and seizure start/end times on EEG tracings determined change in seizure burden. Seven patients received lacosamide as first- or second-line treatment and 8 as third-line or later. Average 4-hour seizure burden decreased from 13% to 3% following lacosamide boluses ( = .002). Reduction in seizure burden greater than 30% followed 79% of boluses. Lacosamide was well tolerated; one patient experienced mild asymptomatic episodic bradycardia that medication taper resolved. Lacosamide significantly decreased seizure burden in this cohort. Prospective studies of lacosamide treatment for neonatal seizures are warranted.