Journal of Child Neurology最新文献

Introduction: Vitamin B₁₂ deficiency is a well-known cause of neurologic symptoms, prompting routine measurement in patients with neurologic conditions. However, elevated B₁₂ levels are also observed in some cases. Recent studies suggest a potential link between high B₁₂ levels and neurologic or neurodevelopmental disorders. This study aims to evaluate vitamin B₁₂ levels in children with neurologic disorders compared with those in general pediatric populations. Materials and Methods: This single-center retrospective study analyzed pediatric patients' vitamin B₁₂ levels between 2000 and 2023. Exclusion criteria included incomplete data and vitamin supplementation. Patients were grouped based on B₁₂ 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 B₁₂ levels (>660 pg/mL) in the neurology clinic. Vitamin B₁₂ levels were measured using Roche Cobas e 601 analyzers. Results: Over 3 years, 4142 pediatric clinic and 2638 pediatric neurology patients were reviewed. Elevated B₁₂ levels were more frequent in the neurology clinic. Patients with elevated B₁₂ levels (n = 338) had a mean age of 8.67 months and a mean B₁₂ level of 894.7 pg/mL. Of 137 patients with follow-up B₁₂ measurements, 40.1% normalized, while 17.5% remained > 1000 pg/mL. The most common diagnosis in patients with persistently high B₁₂ levels was epilepsy, followed by prematurity, cerebral palsy, autism, intellectual disability, and language delay. Conclusions: Elevated vitamin B₁₂ levels were associated with pediatric neurologic disorders, particularly epilepsy. Further research is needed to clarify the mechanisms and clinical implications of this finding.

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.

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.

Background and objectives: 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.

Methods: We present a retrospective cohort study including all children presenting to a single center between 2010 and 2020 with acute demyelination who were positive for serum MOG-IgG antibodies and negative for serum aquaporin-4 antibodies. For each patient, magnetic resonance imaging (MRI) scans of the brain and spine at presentation and on each relapse were reviewed and categorized in a blinded fashion by 2 pediatric neuroradiologists.

Results: Sixteen patients met the inclusion criteria. Four had diffuse and bilateral fluid-attenuated inversion recovery signal in the white matter, but only on initial presentation. The area postrema was never affected. All 5 patients with optic neuritis had pre-chiasmatic (but not chiasmatic) involvement on presentation. The brachium pontis was involved in 3 patients on initial presentation, and in 8 patients at any time. Eleven patients demonstrated spinal cord involvement, and the cervical, thoracic, and lumbar regions were involved at similar frequencies.

Discussion: The radiographic features of MOGAD in children appear to reflect their presenting demyelinating syndromes. However, certain features, such as diffuse fluid-attenuated inversion recovery hyperintensities and expansile fluid-attenuated inversion recovery signal in the brachium pontis, may be more frequent in MOGAD compared with other demyelinating disorders.

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.

Introduction: 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.

Methods: Retrospective analysis was performed on patients <1 year old with idiopathic congenital aqueductal stenosis undergoing endoscopic third ventriculostomy between 2004 and 2020. Preoperative cerebral imaging was performed in all cases. Endoscopic third ventriculostomy efficacy and overall patient outcome were evaluated over the entirety of the monitoring period averaging 146 months (range, 34-218 months). Outcome was assessed by modified Rankin Scale score. Treatment success was assessed in relation to the Endoscopic Third Ventriculostomy Success Score (ETVSS), patient age, and perioperative findings of membranes in the interpeduncular cistern.

Results: The study comprised 14 children aged from 6 to 280 days, mean age 16 weeks, with 11 patients aged <6 months. The characteristic presentation was progressive macrocephaly, with the setting sun sign in 2 cases. The overall Endoscopic Third Ventriculostomy Success Score was 52.1%, whereas endoscopic third ventriculostomy was successful in 12 patients (85.7%) in the first year postoperation and in 11 cases (78.6%) in the long term. Endoscopic third ventriculostomy failure was not related to patient age (P > .99) or perioperative findings of interpeduncular cistern membranes (P = .51). Patient outcome averaged modified Rankin Scale score 1. Most children were without or with minimal disability.

Conclusions: We consider endoscopic third ventriculostomy a safe and effective modality for the initial treatment of patients aged <1 year presenting with congenital aqueductal stenosis-based hydrocephalus.

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

Objective: To describe vitamin D levels in children with headaches.

Methods: We retrospectively analyzed serum 25(OH)D concentrations in children aged 2-17 years with headaches compared to children with epilepsy at the Children's Hospital of Eastern Ontario between October 1, 2014, and August 19, 2021. Serum 25(OH)D <50 nmol/L was classified as insufficient.

Results: Vitamin D concentrations of 353 children (117 with headaches; 236 with epilepsy) were analyzed. The median age in years was 10 (interquartile range [IQR] 5, 14); 50.4% of subjects were female. The median serum 25(OH)D was 56 nmol/L (IQR 41, 69) in children with headaches and 70 nmol/L (IQR 50, 95) in children with epilepsy. Vitamin D insufficiency was present in 42% of children with headaches and 25% of children with epilepsy (P = .002). In a multivariable linear regression model adjusting for age, sex and seasonality, children with headaches had serum 25(OH)D concentrations that were on average 9 nmol/L (95% CI-16.76, -0.96) lower compared to children with epilepsy (P = .029).

Conclusion: The prevalence of vitamin D insufficiency is higher in children with headaches compared to children with epilepsy. Prospective studies are needed to assess if vitamin D supplementation may have a therapeutic effect on pediatric headaches.

Introduction: 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. Methods: 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. Results: 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 (P = .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. Conclusions: Lacosamide significantly decreased seizure burden in this cohort. Prospective studies of lacosamide treatment for neonatal seizures are warranted.

We present an overview of the epidemiology and differential diagnosis of Marcus Gunn jaw-winking syndrome. We scrutinize various hypotheses regarding its etiology and pathogenesis, encompassing abnormal nerve connections, heredity factors, genetic variation, and the release hypothesis, as proposed in prior studies. Furthermore, we discuss the clinical manifestations of Marcus Gunn jaw-winking syndrome and highlight cases with exceptional clinical presentations or concurrent diseases. Moreover, we not only describe the existing surgical and nonsurgical treatments for Marcus Gunn jaw-winking syndrome but also delineate therapies for related conditions such as Meige syndrome, sequelae of facial paralysis, and other oculopalpebral and facial synkinesis. This comprehensive approach serves as a valuable reference for the holistic management of Marcus Gunn jaw-winking syndrome.