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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 β3 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.

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.

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.

Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder with a progressive decline in cognitive, motor, and psychological function. Chorea tends to be the most common associated movement disorder, although other variants of several abnormal movements are also seen. Adult-onset HD is the most common subtype. Juvenile Huntington's disease (JHD) accounts for 5%–10% of all HD cases and presents as a rapidly progressive disorder with a multitude of characteristics. We report on a 9-year-old male with JHD who presented with refractory epilepsy. His EEG findings, seizure type, and antiepileptic drug usage are discussed with a brief review of the currently available relevant literature. The currently reported case sheds light on antiepileptic drugs that proved effective in our patient and the importance of screening for JHD when a child presents with seizures that are difficult to control.

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.

BackgroundMentorship can be defined as developmental assistance offered to a junior employee or trainee by someone more senior and experienced in the field or work place. Mentorship in our pediatric residency training program has existed for years. However, no study has been done to evaluate perspectives, attitudes, and practice of mentorship in this accredited residency program.ObjectivesTo assess faculty and residents views and satisfaction about the mentorship process overall. Accordingly, to try to discern some recommendations in order to improve the practice and fill in the gaps.MethodologyThe study was conducted using mailed, two mirror-side sets of questionnaires to both residents and faculty staff members involved in the mentoring program in pediatric residency training. Results were then recorded and analyzed manually.ResultsThere is a large discrepancy in the views of residents and faculty staff in regard to their perception and practice of mentorship.ConclusionsTeaching and direct meeting sessions are obviously needed to train both faculty and residents about the appropriate mentorship culture and implementation.

Background: Hurst disease is the rarest yet the most fatal form of acute demyelinating encephalomyelitis. There around 100 cases around the world, 10 of them are pediatric patients. The disease is quite severe in course and aggressive therapy is crucial to help improving the outcome. We are reporting a rather successful story of early recognition and treatment of young toddler with using all lines of known therapies simultaneously and aggressively. Case report: We are reporting 2 ½ years old girl who was previously healthy. She has some viral prodromal illness ended by severe encephalopathy. She has found to have novel H1N1 infection. Early plasma exchange and therapeutic hypothermia have been simultaneously utilized. There was obvious significant fast improvement in clinical status thereafter. Discussion: Immune therapy is advised in treating Hurst disease. One trial of hypothermia has been suggested in one case report. However, Combination of early use of plasma exchange and therapeutic hypothermia has not been reported in literature up to our knowledge. Our patient showed impressive clinical progress following these rarely used procedures. Conclusion: Recognition of autoimmune encephalitis especially the most severe forms is a must. If the patient shows enough clinical and radiological signs suggestive of Hurst disease, then aggressive immunotherapy and therapeutic hypothermia should be considered. A more favorable outcome might be reached using these therapies simultaneously

Background: Common Variable Immunodeficiency (CVID) is a clinically heterogeneous antibody deficiency syndrome. The usual presentation is with recurrent respiratory infections. There is a strong association between CVID and autoimmune disorders. However, for CVID to present initially and solely with Autoimmune Encephalitis (AIE) is extremely rare. Case report: A previously healthy three years old boy presented with acute encephalopathy and intractable seizures. His clinical features and radiological findings were highly suggestive of AIE. His evaluation has revealed findings consistent with diagnostic criteria of CVID. Recurrent infections have later on evolved during his prolonged illness. Discussion: Both CVID and AIE pose a diagnostic difficulty. The prevalence of autoimmune disorders in CVID patients’ cohort can be up to 50%. However, central nervous system involvement in those patients is rare. The authors are not aware of this presentation being reported in children. Conclusion: In young children presenting with unexplained autoimmune encephalitis, investigations of immune system my reveal CVID, and timely and appropriate management would could be initiated.

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.

Introduction: Cerebro-vascular accidents do happen for both adults & children. Pediatric data in contrary to adult data are clearly deficient & lacking behind. Childhood cerebellar strokes are much more rare & difficult to pick up. Case Report: We are reporting a toddler girl, who happened to be an ex premature & part of quadruplet. She presented with severe headache & head tilting in the absence of other focalizing CNS symptoms. Her brain MRI showed changes suggestive of cerebellar stroke. The Patient has improved clinically & radiologically after proper therapy. Discussion: Cerebellar infarctions are likely to be arterial occlusion as a result of vertebral artery dissection, mainly with PICA involvement. An association with some biomarkers & antibodies like anti-2GPI which has been suggested. Trauma, drugs & CNS infection have all been explored as risk factors for childhood cerebellar strokes. Long term outcomes remain poorly studied. Conclusion: High index of suspicion is required to diagnose cerebellar strokes in children. Clinical presentation is often non specific. Our case report represents a successful story of diagnosis, treatment and improvement. However, our understanding of underlying pathological processes, risk factors, management guidelines & future outcome is very limited. Further large scale studies are apparently needed.