Journal of Child Neurology最新文献

ObjectiveThere has been limited research on carnitine levels, supplementation, and the ketogenic diet.MethodsOver 8 years, 150 consecutive children treated with the ketogenic diet at Johns Hopkins Hospital were evaluated and information about carnitine levels and use obtained.ResultsOne hundred five (70%) had carnitine levels checked. The mean total carnitine level at first follow-up was 56 µmol/L (standard deviation [SD] 32) (normal range 30-60 µmol/L) and free 26 (SD 19) µmol/L (normal range 22-52 µmol/L). In those not supplemented with carnitine, total carnitine was stable (46.2 [SD 12] to 44.9 [SD 19] µmol/L, P = .80), whereas free carnitine decreased (35.8 [SD 12] to 20.1 [SD 11] µmol/L, P < .001). Those on valproate had lower baseline total carnitine levels (40.7 [SD 20] vs 52.0 [SD 15] µmol/L, P = .02). At 3 months, 83% with normal total carnitine levels (>30 µmol/L) had >50% seizure reduction compared to 60% with hypocarnitinemia (P = .06). Carnitine was supplemented in 36 (24%), typically in those older, on higher ketogenic ratios, prior to 2020, and with longer ketogenic diet durations. Twelve (33%) had documented benefit from carnitine supplementation, but there was no group difference in seizure control or ketosis.ConclusionsIn this single-center study, hypocarnitinemia was seen at baseline in those on valproate and decreased free carnitine levels occurred over time. Those with higher total carnitine levels at 3 months were slightly more likely to be improved. Carnitine was supplemented in one-quarter of patients, with 1 of 3 showing modest benefit in ketosis and seizures.

Infantile neuroaxonal dystrophy (INAD) is an extremely rare neurodegenerative disorder affecting 1 in 1 000 000 children. The PLA2G6 gene mutation is associated with infantile neuroaxonal dystrophy. Symptoms typically begin between 6 and 18 months of age, leading to neurodegeneration, particularly impacting motor skills. This article presents 7 pediatric cases (aged 12 months to 11 years) clinically and radiologically diagnosed with infantile neuroaxonal dystrophy, with at least 1 variation in the PLA2G6 gene. All patients show neurodegeneration, particularly in the motor area, with normal laboratory test results and a high rate of consanguinity among parents (6/7 patients). Clinical findings included spasticity or hypotonia, nystagmus in 3 patients, and ataxia in 1 patient, but none of them showed extrapyramidal signs. Major brain magnetic resonance imaging (MRI) findings include cerebellar atrophy and claval hypertrophy, as well as alterations in cerebellar hemisphere density and drooping splenium of the corpus callosum. The patients exhibiting nystagmus, hypotonicity, absent deep tendon reflexes, and drooping of the splenium of the corpus callosum demonstrated early initial clinical findings and had a poor prognosis. Six of the 7 patients have a homozygous variant, whereas 1 has a compound heterozygous variant. All patients are bedridden, and their Gross Motor Function Classification System score is 5. We emphasize that a patient who experiences neurodegeneration after 1 year of age, with normal laboratory test results and cerebellar atrophy observed on brain MRI, should be considered for infantile neuroaxonal dystrophy. Furthermore, we believe that the drooping splenium of the corpus callosum is one of the radiologic indicators of infantile neuroaxonal dystrophy, and early recognition of this disease can lead to accurate diagnosis, effective treatment plans, and genetic counseling.

ObjectiveThe purpose of this study was to investigate the efficacy of transcutaneous vagus nerve stimulation in pediatric patients with drug-resistant epileptic encephalopathy with spike-and-wave activation in sleep.MethodsWe prospectively investigate seven drug-resistant epileptic encephalopathy with spike-and-wave activation in sleep children who underwent transcutaneous vagus nerve stimulation for 12 weeks. The Chinese Revised Wechsler Intelligence Scale for Children (C-WISC) was used to assess cognitive changes before and after stimulation. Microstate parameters (mean duration, occurrence, and coverage) were obtained by quantifying each patient's electroencephalography (EEG) findings. Correlation analyses were used to assess the association between microstate parameters and cognitive scores. We analyzed the brain dynamics of the patients based on 4 categories of classical microstates using weighted phase lag index to construct a whole brain dynamic network. Finally, the brain network was quantitatively analyzed based on graph theory metrics (including global efficiency, local efficiency, and strength).ResultsA 12-week transcutaneous vagus nerve stimulation resulted in a significant increase in M/CIQ (Memory/Concentration Intelligence Quotient) and in seizure cessation in 57.14% of patients. The mean duration of microstate C was significantly reduced and enlarged the bidirectional predominance of microstate A and B, while weakening the directional predominance of microstates A, B, and D to C. The global efficiency, local efficiency, and strength of the microstate-based functional subnetwork were significantly reduced. And M/CIQ showed a strong correlation with the mean duration.SignificanceThis study revealed the efficacy of transcutaneous vagus nerve stimulation in improving the cognitive state of drug-resistant epileptic encephalopathy with spike-and-wave activation in sleep pediatric patients.

BackgroundHemicrania continua and paroxysmal hemicrania are rare in the pediatric population. Recognizing these disorders characterized by unilateral headaches with autonomic features can reduce time to diagnosis, facilitate effective medical treatment, and reduce morbidity.ObjectiveTo review the diagnostic criteria and pathophysiology of hemicrania continua and paroxysmal hemicrania, analyze a retrospective cohort of adolescent patients with indomethacin-responsive headaches, and discuss the clinical features of these patients, both in how they follow the diagnostic criteria for these disorders and how they may deviate. We also examined time to diagnosis and prognosis for this cohort.MethodsA retrospective chart review was completed of patients 12-18 years old from 2014 to 2021 diagnosed with indomethacin-responsive headaches who presented to a tertiary pediatric headache clinic. Clinical headache characteristics, demographic features, medical diagnoses, and diagnostic testing were reviewed and collated.ResultsEight patients (7 female, 1 male) had indomethacin-responsive headaches. Six patients were diagnosed with hemicrania continua and 2 were diagnosed with paroxysmal hemicrania. The most common autonomic symptoms were unilateral nasal congestion and conjunctival injection/lacrimation. The median time to diagnosis was 15 months, and the median treatment length was 7 months.ConclusionPatients can have multiple headache phenotypes. Clinicians should ask headache patients of all ages about autonomic symptoms and unilateral headaches, specifically in fixed unilateral headaches. These headaches should be evaluated with imaging to rule out secondary intracranial causes. In those cases, with these features, an indomethacin trial is part of the diagnosis and should be considered early in the course.

BackgroundSubacute sclerosing panencephalitis is typically characterized by myoclonic jerks, cognitive decline, movement disorders, and periodic complexes on electroencephalography (EEG). Although myoclonus is a hallmark feature, other seizure types including generalized/focal seizures are less commonly described in subacute sclerosing panencephalitis. We aimed to study seizure frequency, types, spectrum of epilepsy syndromes, and atypical EEG findings among children with subacute sclerosing panencephalitis.Materials and MethodsA retrospective chart review of 100 children (aged 1-18 years) diagnosed with subacute sclerosing panencephalitis (April 2020-April 2024) was conducted. Data collected included demographics, clinical features, seizure semiology, EEG, and magnetic resonance imaging (MRI) findings. Outcome measures included the proportion of children experiencing seizures beyond myoclonus, the spectrum of seizures and epilepsy syndromes as per the International League Against Epilepsy (ILAE) 2017 seizure classification and the ILAE 2022 diagnostic framework for electroclinical syndromes, respectively, and description of other atypical EEG patterns.ResultsAmong 100 children (73% males, age range 5.5-10 years), 54% had seizures beyond myoclonus, which included bilateral tonic-clonic seizures in 48 children, focal seizures in 5 children, and 1 child with epileptic spasms. Six children had classifiable epilepsy syndromes, including 5 children with epileptic encephalopathy with spike-wave activation in sleep and 1 child with infantile epileptic spasms syndrome. Atypical EEG patterns, seen in 22%, included epileptic encephalopathy with spike-wave activation in sleep-like pattern, modified hypsarrhythmia-like pattern, electrodecrement within periodic complexes, etc, which correlated with advanced stages of subacute sclerosing panencephalitis.ConclusionsSubacute sclerosing panencephalitis can often mimic epileptic encephalopathies. Atypical seizure semiologies and varied EEG patterns highlight the need for strong clinical suspicion to avoid misdiagnosis and delayed disease recognition, especially in endemic countries like India.

The Modified Mini-Mental State Examination for Children (MMSEc) is a screening tool for identifying intellectual disabilities in children. This study compares MMSEc scores with Full-Scale Intelligence Quotient (FSIQ) scores in 6-14-year-old children with epilepsy (n = 56) and controls with no neurologic disorders (n = 56). A positive correlation was observed between FSIQ and MMSEc scores (Spearman r = 0.873; P < .001). The MMSEc demonstrated a sensitivity of 77.08%, specificity of 100%, positive predictive value of 100%, negative predictive value of 42.11%, and an overall accuracy of 80.35% in identifying children with an FSIQ lower than 70. The area under the receiver operating characteristic curve was 0.993, with the optimal MMSEc threshold score being 22. MMSEc scores were low (<2 SD) for age-defined norms in 66.1% of children with epilepsy. The MMSEc could potentially be a quick and useful tool to screen for intellectual disability in children.

This study examines the course of intelligence in children with neurofibromatosis type 1 (NF1) and factors influencing changes. In this cross-sectional and longitudinal study, 397 children were assessed at ages 3, 6, 11, and 15 years using a neuropsychological test battery. Comparisons of demographics and scores were conducted across and within cross-sectional and longitudinal groups. Cross-sectionally, 15-year-olds outperformed 11-year-olds on Performance IQ (PIQ). A reduced PIQ at age 11 years was found that appeared to recover by age 15 years in the longitudinal group. The mother's level of education, the mode of inheritance, or attention-deficit hyperactivity disorder were not predictive of these changes. Overall, intelligence remains stable in children with NF1 between 3 and 15 years of age. The gap between PIQ and VIQ decreases over time. Neurocognitive monitoring is recommended during the critical period between ages 6 and 11 years due to risks of attention and learning issues.