Clinical application of magnetic resonance elastography in pediatric neurological disorders.

Magnetic resonance elastography is a relatively new, rapidly evolving quantitative magnetic resonance imaging technique which can be used for mapping the viscoelastic mechanical properties of soft tissues. MR elastography measurements are akin to manual palpation but with the advantages of both being quantitative and being useful for regions which are not available for palpation, such as the human brain. MR elastography is noninvasive, well tolerated, and complements standard radiological and histopathological studies by providing in vivo measurements that reflect tissue microstructural integrity. While brain MR elastography studies in adults are becoming frequent, published studies on the utility of MR elastography in children are sparse. In this review, we have summarized the major scientific principles and recent clinical applications of brain MR elastography in diagnostic neuroscience and discuss avenues for impact in assessing the pediatric brain.

Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years' Experience.

Introduction: Neurofibromatosis type 1(NF-1) is the commonest neurocutaneous phacomatosis in children. Epilepsy is an infrequent comorbidity. Reports of seizure and Electroencephalogram (EEG) characteristics in children are sparse. Methods: A retrospective review was performed on patients with NF-1 seen between 2016-2020. Patients with co-existing epilepsy were identified. Demographic, clinical, radiological and neurophysiological data were reviewed and analyzed. Results: Out of 118 children with NF1, 16 had epilepsy. 11 patients had focal onset seizures, whereas 5 had generalized onset seizures. Most patients had easy seizure control. Focal epileptiform discharges were the most prevalent EEG abnormality. There was no significant correlation between seizure patterns and presence of intracranial tumors. Conclusion: Epilepsy is a relatively uncommon in pediatric NF-1. Seizures are often of focal semiology and likely to be easily controlled. Focal and multifocal spike epileptiform discharges are the typical interictal EEG findings. Correlation of clinical and EEG findings with intracranial lesions is poor.

Advanced Neuroimaging Approaches to Pediatric Brain Tumors.

Central nervous system tumors are the most common pediatric solid tumors; they are also the most lethal. Unlike adults, childhood brain tumors are mostly primary in origin and differ in type, location and molecular signature. Tumor characteristics (incidence, location, and type) vary with age. Children present with a variety of symptoms, making early accurate diagnosis challenging. Neuroimaging is key in the initial diagnosis and monitoring of pediatric brain tumors. Conventional anatomic imaging approaches (computed tomography (CT) and magnetic resonance imaging (MRI)) are useful for tumor detection but have limited utility differentiating tumor types and grades. Advanced MRI techniques (diffusion-weighed imaging, diffusion tensor imaging, functional MRI, arterial spin labeling perfusion imaging, MR spectroscopy, and MR elastography) provide additional and improved structural and functional information. Combined with positron emission tomography (PET) and single-photon emission CT (SPECT), advanced techniques provide functional information on tumor metabolism and physiology through the use of radiotracer probes. Radiomics and radiogenomics offer promising insight into the prediction of tumor subtype, post-treatment response to treatment, and prognostication. In this paper, a brief review of pediatric brain cancers, by type, is provided with a comprehensive description of advanced imaging techniques including clinical applications that are currently utilized for the assessment and evaluation of pediatric brain tumors.

Para and Post-COVID-19 CNS Acute Demyelinating Disorders in Children: A Case Series on Expanding the Spectrum of Clinical and Radiological Characteristics.

Viral infections can serve as a trigger for variable autoimmune, antibody-mediated demyelinating disorders. There is accumulating evidence that the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus, causing coronavirus disease 2019 (COVID-19) infection and responsible for the current worldwide pandemic, can lead to a cascade of immune-mediated brain and spinal cord demyelinating injuries. However, such observation in the pediatric age group was only reported in very few patients. Thus, the heterogeneous spectrum of this phenomenon in children is still unfolding. We are reporting a case series of five pediatric patients with a variety of acute central nervous system (CNS) demyelinating disorders in the context of acute or recent COVID-19 infection. A 16-year-old female with anti-myelin oligodendrocyte glycoprotein (MOG) disorder, an eight-year-old male with acute disseminated encephalomyelitis (ADEM), a 13-year-old female with neuromyelitis optica spectrum disorder (NMOSD), and two 14 and 13-year-old females with new-onset multiple sclerosis (MS) are reported, all of whom presented acutely following COVID-19 infection. We propose that para and post-infectious CNS demyelinating disorders can potentially follow acute COVID-19 infection in children. Considering SARS-CoV-2 testing as a part of diagnostic workup is possibly useful. Awareness of the presence of this phenomenon can help in the recognition and management of those patients.

Intermittent Frontal Rhythmic Discharges as an Electroencephalogram Biomarker of Acute SARS-CoV-2 Infection-Associated Encephalopathy in Children.

Data on neurological sequelae of COVID-19 infection in children are sparse. Neurotropic and neuroinvasive potentials of the SARS-CoV-2 virus are a matter of ongoing scientific debate and not yet well understood. Most of the reported symptoms are nonspecific including headache, encephalopathy, weakness, and as a part of multisystem inflammatory response syndrome. Few observational studies have reported acute encephalopathy to be one of the neurological manifestations of COVID-19 infection, mostly in adults. A little is known about epileptogenesis or electroencephalogram (EEG) findings in this limited cohort of pediatric patients. We report a 17-year-old female with type 1 diabetes mellitus (DM), who presented with two weeks history of intermittent headaches, followed by a one-day history of acute change in behavior in the form of prolonged staring, decreased speech, confusion, and alternating periods of agitation and sleepiness. No fever or respiratory symptoms. Her blood glucose was normal. Brain MRI was unremarkable. Cerebrospinal fluid (CSF) studies showed 1000 RBCs, no WBCs, normal glucose/protein, negative culture, and negative infectious PCR, and autoimmune panels. She was found to be positive for SARS-CoV-2 PCR with negative IgG. Her EEG showed remarkable background slowing and frequent frontal intermittent rhythmic discharges. She was managed with high-dose steroids with the full clinical recovery of all symptoms at discharge, as well as normalization of subsequent EEG studies. We hypothesize there may be some specific seizure characteristics or EEG patterns in patients with pediatric COVID-19 infection and concomitant acute encephalopathy. It is perhaps reasonable to obtain EEG studies in children who test positive for SARS-CoV-2 and report central neurological symptoms. Long-term follow-up of this cohort of patients will be helpful to understand the clinical significance and implications of such neurophysiological studies.

Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations.

GABRB3 gene is a recently identified gene located in 15q12 chromosome and encodes for gamma-aminobutyric acid (GABA) receptor subunit beta-3 protein, which is linked to the GABAA receptor. The gene is believed to share a role in inhibitory GABAergic synapses, GABA iron-gated channel function, and possible cellular response to histamine. The ß3 subunit is expressed in cerebral grey matter, thalami, hippocampi, and cerebellum, among other structures. Faulty GABRB3 function is linked to several neurological disorders and clinical syndromes. However, the spectrum of such disorders is not yet well known. We present three case reports highlighting the potentially expanding clinical phenotype and variable expression in children with mutated GABRB3 gene.

Convulsive Status Epilepticus in a Child With Controlled Epilepsy and Concurrent COVID-19 Infection: A Case Report and a Quick Review.

The current unprecedented COVID-19 pandemic has been another step toward learning about the unique interaction between viral infections and human nervous system. Very few scientific papers explored neuroinvasive and neurotropic potentials of the SARS-CoV-2 virus in children. We report a child with convulsive status epilepticus and confirmed COVID-19 infection. Brief review of current available literature was discussed.

Idiopathic Non-traumatic Facial Nerve Palsy (Bell's Palsy) in Neonates; An Atypical Age and Management Dilemma.

Idiopathic (Bell's) palsy is the commonest cause of unilateral facial paralysis in children. Although being idiopathic by definition, possible infectious, inflammatory, and ischemic triggers have been suggested. Bell's palsy is thought to be responsible for up to three-fourths of cases of acute unilateral facial paralysis worldwide. The diagnosis has to be reached after other causes of acute peripheral palsy have been excluded. However, it is rarely described in neonates and young infants. Steroids may have some role in treatment, but antiviral therapies have doubtful evidence of benefit. Prognosis is good, though residual dysfunction is occasionally encountered. We report the case of a two-week-old neonate with no prior illnesses who presented with acute left facial palsy. Clinical findings and normal brain imaging were consistent with the diagnosis of Bell's palsy. The patient had a good response to oral steroids.

Improving access for Urgent patients in Paediatric Neurology.

Referral and flow management is an important part of outpatient care; some patients require to be seen earlier than the next available appointment because of the nature of their presentation. We did not have a clear pathway for urgent patients being referred to our pediatric neurology service. When we reviewed this process in our Quality Improvement meeting we identified wide variation in the length of time such patients wait to be seen in clinic ranging from 2 to 11 weeks. Only 25% of patients identified as requiring urgent clinic appointments were seen in clinic within 2 weeks of triage. A new triage system was designed to identify urgent patients consistently. Three PDSA cycles tested change ideas: the first cycle tested introducing an urgent triage system, the second cycle tested giving urgent appointments directly from the triage decision utilising clinic cancellations and the third PDSA tested double notification of appointments for all urgent patients using the call centre and the neurology specialist nurses. After the third PDSA the percentage of patients seen within 2 weeks of triage increased from 25% to 80%. This change was tested across one clinic initially then tested across two more clinics. Our balancing measure, the third available routine appointment, remained stable indicating that improving access to emergency patients did not affect the waiting time for routine appointments. With good management of triage it is possible to improve access for urgent patients to be seen in clinic without impact on availability of routine appointments, resulting in better quality of care and patient satisfaction. Earlier appointments also improve clinic attendance rates.

Neuro-imaging evaluation after the first afebrile seizure in children: A retrospective observational study.

PURPOSE: To evaluate the role of neuro-imaging in children presenting with the first afebrile seizure and determine factors that influence the outcome of imaging in a large paediatric emergency centre. METHOD: This is a retrospective review of the medical records of all patients presenting with the first non-febrile seizure to a large paediatric emergency centre in the state of Qatar. Seizure classification followed the current ILAE classification system. Imaging was undertaken in our tertiary hospital and all images were reviewed by experienced neuro-radiologists. Student t test was used for statistical analysis. RESULTS: Ninety-six children underwent neuro-imaging following the first afebrile seizure. Of them, thirty-two patients (33%) were reported to have abnormalities. Children below the age of two demonstrated a significantly higher percentage of abnormal imaging (59%); (p=0.002). Children presenting with prolonged seizures showed a high percentage of imaging abnormalities (58%); (p=0.003). Children with focal seizures demonstrated a higher percentage of imaging abnormality compared to those presenting with generalized seizures (35% vs 31%). This difference did not reach statistical significance. CONCLUSION: Children below the age of two demonstrated significantly higher percentages of abnormal imaging (59%), as did children presenting with status epilepticus (58%). Neuro-imaging should be considered in infants and those with focal or prolonged seizures. Neuro-imaging informed decision making in 6-8% of children.

Utility of Plasmapheresis in Autoimmune-Mediated Encephalopathy in Children: Potentials and Challenges.

Autoimmune-mediated encephalopathy in children continues to constitute a diagnostic and therapeutic challenge in pediatric population. Utility and usefulness in this clinical setting of plasmapheresis have seldom been evaluated in current pediatric literature. Children with immune-mediated encephalopathies represent a uniquely different group among patients presenting to intensive care units or neurological services worldwide. Arriving at a final diagnosis is not an easy task for treating physicians. It is very crucial to consider early use of first-line immunotherapy modalities, save those children's lives and improve outcomes. Plasmapheresis is an emerging, potentially beneficial first-line therapy in such patients. However, indications, value, logistics, and procedural difficulties are often faced. This study is mainly meant to review the current knowledge in regard to the clinical value of plasmapheresis in children with immune-mediated encephalopathy.

Febrile Seizures and Febrile Seizure Syndromes: An Updated Overview of Old and Current Knowledge.

Febrile seizures are the most common paroxysmal episode during childhood, affecting up to one in 10 children. They are a major cause of emergency facility visits and a source of family distress and anxiety. Their etiology and pathophysiological pathways are being understood better over time; however, there is still more to learn. Genetic predisposition is thought to be a major contributor. Febrile seizures have been historically classified as benign; however, many emerging febrile seizure syndromes behave differently. The way in which human knowledge has evolved over the years in regard to febrile seizures has not been dealt with in depth in the current literature, up to our current knowledge. This review serves as a documentary of how scientists have explored febrile seizures, elaborating on the journey of knowledge as far as etiology, clinical features, approach, and treatment strategies are concerned. Although this review cannot cover all clinical aspects related to febrile seizures at the textbook level, we believe it can function as a quick summary of the past and current sources of knowledge for all varieties of febrile seizure types and syndromes.