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.

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).

Multiple autoimmune syndrome (MAS) is characterized by the coexistence of 3 or more autoimmune disorders in the same individual and is exceptionally rare in childhood. Pediatric-onset multiple sclerosis (POMS) represents 3% to 5% of all multiple sclerosis (MS) cases and is increasingly recognized within the broader spectrum of immune-mediated diseases. We describe 2 pediatric patients fulfilling MAS criteria in association with POMS-one with type 1 diabetes mellitus and autoimmune thyroiditis, and another with rheumatoid arthritis and autoimmune thyroiditis. Both exhibited HLA-DRB1*15:01 positivity, Epstein-Barr virus IgG seropositivity, and severe vitamin D deficiency, suggesting shared immunogenetic and environmental risk factors. These cases highlight the potential of POMS to manifest as part of a systemic autoimmune diathesis. Early recognition, proactive screening, and multidisciplinary management are essential. Further multicenter studies and registry-based data are needed to clarify the prevalence, mechanisms, and prognostic implications of MAS in pediatric MS.

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.

Juvenile neuronal ceroid lipofuscinosis, linked to mutations in the ceroid lipofuscinosis, neuronal 3 (CLN3) gene, is a childhood-onset neurodegenerative disorder. Although mood and behavioral symptoms are described in this group, it's unclear whether these meet diagnostic criteria. We investigated the occurrence of neurodevelopmental and psychiatric disorders in a nationally representative sample, using a semistructured psychiatric interview, as well as the use of psychotropic medication. Ten of 20 individuals met the criteria for one or more current diagnoses, with an additional 5 having past diagnoses, resulting in a lifetime occurrence in 15 individuals. Anxiety disorders were the most frequent diagnostic group, followed by neurodevelopmental disorders. Attention-deficit hyperactivity disorder was the most common single diagnosis. Subthreshold psychiatric symptoms were present in all individuals. Although psychiatric disorders were frequent, few used psychotropic medication. These findings underscore the need for routine monitoring of neurodevelopmental and psychiatric disorders in individuals with CLN3 and the provision of evidence-based treatments.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder involving systemic inflammation and multi-organ damage, which often affects the central nervous system (CNS). Familial HLH, which is caused by mutations in genes such as PRF1 and UNC13D, impairs the function of cytotoxic cells, leading to uncontrolled immune activation. CNS involvement occurs in 30% to 73% of cases and manifests as seizures, encephalopathy or status epilepticus, which often mimics other neurologic conditions. This article presents the case of a 28-month-old boy with PRF1-related HLH who developed super-refractory status epilepticus during CNS relapse, despite having undergone a prior hematopoietic stem cell transplantation (HSCT). An initial MRI scan revealed diffuse cortical and cerebellar abnormalities, whereas systemic HLH findings emerged later. Treatment included antiseizure medications, immunotherapy and etoposide, but severe neurologic deficits persisted. A review of the literature on 20 pediatric HLH cases presenting with status epilepticus revealed a variety of presentations, including focal, generalized and febrile infection-related epilepsy syndrome (FIRES). Neuroimaging showed white matter lesions, atrophy or diffusion abnormalities, whereas CSF findings ranged from normal to elevated protein and neopterin levels. Mortality was high (45%), with survivors often experiencing cognitive or motor impairments. HLH relapse can initially present with isolated CNS involvement, emphasizing the need for early neuroimaging and cerebrospinal fluid (CSF) analysis in suspected cases. Despite aggressive treatment, outcomes remain poor, highlighting the need for further research into optimal management strategies.