Journal of Child Neurology最新文献

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.

ObjectiveWe aimed to present a patient who developed a severe chorea after orthopedic surgery, plausibly related to multiple anesthetic agents.CaseAn otherwise healthy 11-year-old girl developed choreiform movements and distressing behaviors (screaming, visual hallucinations) 24-36 hours after ankle-fracture surgery. With urgent stabilization needed and haloperidol not yet at an effective dose, continuous midazolam infusion provided prompt control. Other potential causes of chorea were excluded: brain magnetic resonance imaging and cerebrospinal fluid were normal; routine biochemistry and complete blood count were unremarkable; autoimmune encephalitis antibodies, antinuclear antibody, and anti-dsDNA were negative; anti-streptolysin O was not elevated, echocardiography was normal; throat culture and viral serologies were negative. After exclusion of alternative etiologies, the presentation was attributed to propofol and tramadol exposure (movement disorder component) with a paradoxical reaction to midazolam (psychiatric symptoms).ConclusionSuch adverse effects can occur after anesthesia and may appear in a delayed fashion, independent of drug half-lives. Benzodiazepine infusion can serve as an effective bridge/primary therapy in antipsychotic-refractory postoperative hyperkinesias of childhood.

In children with severe, refractory hemispheric epilepsy syndromes, the removal or disconnection of the diseased cortex on one hemisphere from the rest of the brain (hemispherectomy) is a last-resort treatment to cure epilepsy. The removal or disconnection of the motor cortex expectedly leads to contralateral hemiparesis. Partial recovery of the leg or proximal arm may occur over time from the plasticity of alternate motor pathways, but finer hand movements generally do not recover. The advent of neuroprostheses delivering invasive or non-invasive stimulation at different levels of the motor pathways holds promise to enhance motor recovery after a neurologic injury. In this manuscript, we review the mechanisms of motor recovery after a hemispherectomy and discuss how emerging neuromodulation options could be used to improve function. We conclude that the most suitable neuromodulation options for short-term clinical trials are vagal nerve stimulation paired with rehabilitation, and tonic spinal cord stimulation (transcutaneous or with implanted electrodes). We also identify promising neuromodulation options that would require further preclinical investigation in animal models: subcortical deep brain stimulation (motor thalamus, contralateral dentate nucleus), brain-spine interfacing, and motor cortex stimulation. Altogether, this manuscript lays the theoretical foundations for the investigation of neuromodulation therapies to improve the motor outcomes of patients who underwent a hemispherectomy for refractory epilepsy.

Prechtl's General Movement Assessment (GMA) and the Hammersmith Infant Neurological Exam (HINE) are recommended for early detection of cerebral palsy (CP) in high-risk infants. These tools are well validated in premature infants but less well studied in the high-risk term population. We sought to determine the added prognostic value of incorporating GMA and HINE assessment in term- and near-term infants with hypoxic ischemic encephalopathy (HIE) who underwent therapeutic hypothermia (TH). In this retrospective and prospective pilot case series of 20 neonates with HIE that were treated with TH, we analyzed the associations between HIE severity, early clinical course, electroencephalography (EEG) background, and magnetic resonance imaging (MRI) injury pattern, with performance on the GMA and HINE. Absence of fidgety movements was significantly associated with severity of EEG background and was most concordant with gray matter injury score on MRI. There were no significant associations between 3-month HINE scores and any clinical measure. Three-month HINE scores were overall lower than published norms for age and tended to normalize over time in patients that had normal fidgety movements. Although the generalizability of these findings is limited because of the small sample size and lack of long-term outcomes, they support incorporation of the GMA as an early outcome in the follow-up of this population for accurate early identification of CP, which is complemented by longitudinal HINE scores for further delineation of severity and topography.

The PRRT2 gene located at 16p11 encodes proline-rich transmembrane protein with the heterozygous PRRT2 mutation being commonly reported. The most common variant found was the c.649dup.(Arg217Profs*8). Various case reviews documenting pathogenic PRRT2 variants reported an association with paroxysmal movement disorders, including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia associated with infantile convulsions (PKD/IC), also known as infantile convulsions with choreoathetosis syndrome paroxysmal non-kinesigenic dyskinesia (PNKD), hemiplegic migraine, and exercise-induced dyskinesia. However, more recent reports have also documented mutation associated with a broader clinical picture presenting with congenital microcephaly, severe learning difficulties, and pharmacoresistant encephalopathy. We hereby report a patient who presented with paroxysmal dyskinesia, harbouring the mutation variant on PRRT2 gene. At 5 months of age, our proband presented to emergency because of jerking movements while in a moving car. This was followed by generalized tonic-clonic seizures and kinesigenic posturing. The latter would occur tens of times per day and a specific trigger did not always prevail. The movements responded well to low-dose carbamazepine and genetic studies confirmed a mutated variant of c.649dup.(Arg217Profs*8).

IntroductionGuillain-Barré Syndrome (GBS) is an immune-mediated polyneuropathy that is rare in neonates. It may be acquired congenitally via maternal antibody transfer or postnatally after infection. We report a case of postnatally acquired neonatal GBS potentially triggered by SARS-CoV-2 with a review of the literature.PatientA 24-day-old term male presented with progressive hypotonia, a weak cry, and respiratory distress. He had a preceding febrile illness with gastrointestinal symptoms. Examination revealed areflexia, cranial nerve involvement, and generalised weakness.ResultsInvestigations showed albuminocytologic dissociation in cerebrospinal fluid, cauda equina enhancement on magnetic resonance imaging, and motor-sensory polyneuropathy on nerve conduction studies. The infant had high anti-SARS-CoV-2 IgG (>4000 IU/mL) with negative maternal titres. After 2 courses of intravenous immunoglobulin (IVIg), he recovered fully and remained developmentally normal at 2-year follow-up.ConclusionGBS should be considered in floppy neonates with a postinfectious presentation. This case highlights the possibility of SARS-CoV-2 as a postnatal trigger and the importance of early recognition and treatment with IVIg.