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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.

IntroductionSeizures are among the most common neurological disorders in the pediatric age group. Up to 10% of children might experience at least one episode suggestive of seizure activity in their life. It is thought that 5% of all medical attendances to emergency department are related to seizures. Whether the first non-febrile seizure is the kick start of long term epilepsy is always a question that physicians & families encounter. Ordering Electroencephalogram (EEG) for children with first non-febrile seizure is a subject of continuous debate.ObjectivesTo collect demographic background data for children (1 month to 14 years) who presented with the first non-febrile seizure, To determine the prevalence & pattern of EEG abnormalities in Children (1 month to 14 years) with first non-febrile seizure, To estimate the possible yield of EEG in first non-febrile seizure as possible predictor of seizure recurrence or future epilepsy, and To collect possible evidence sufficient to make a recommendation for the use versus abandoning use of routine EEG in children with first episode of non-febrile seizure.MethodsIn a retrospective observational study around (400) children who were admitted with first non-febrile seizure to the Pediatric Emergency Centers (PECs) and their seizure were defined using the international league against epilepsy (ILAE) between January 2012 to December 2013 were studied. EEG was requested for 76 patients. Their EEG were reviewed and interpreted by pediatric neurology consultants. Patients’ demographic data and EEG records are then analyzed.Results & ConclusionEpileptic seizure should be diagnosed clinically and EEG is just a helpful tool. Utility of EEG is debatable in childhood first non-febrile seizure. EEG is helpful but interpretation should be individualized. EEG alone is not very good predictors of seizure recurrence or overall prognosis. Larger scale studies with longer follow up are needed.Learning pointsThis is the first epidemiological study in Qatar in regard to children with epilepsy. It has given almost matching results in regard to background factors & yield of diagnosis in this small country with unique population constituents. This study however has formed the first step towards establishing pediatric epilepsy database project in Qatar. Recruiting of more patients & follow up studies are the future visions of this study.

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: Neurological complications of influenza viral infection have rarely been discussed in current literature. In the era of recent outbreaks of this potentially serious viral illness, understanding of possible extrapulmonary clinical manifestations is crucially needed. Case report: We are reporting two toddler girls who have been endorsed as previously healthy. Both patients have presented with a febrile respiratory illness followed by severe encephalopathy needing intensive care unit admission. They have been found to have novel H1N1 infection. Their neuroimaging studies were consistent with severe acute disseminated encephalomyelitis (ADEM). Good response to immunotherapy has been luckily achieved. Discussion: ADEM is an acute autoimmune encephalopathy disease which is commonly triggered by viral illnesses. However, particular correlation with novel H1N1 viral infection is not well described. Whether H1N1 triggers more severe clinical and radiological variant of ADEM is not yet precisely known, though has been observed in our study. Current knowledge in regard to neurological burden of H1N1 infection is reviewed. Conclusion: It is likely that H1N1 can trigger a more severe form of ADEM in children. Early suspicion and isolation of H1N1 virus in children who present with acute unexplained encephalopathy in the context of any viral illness seems to be a recommended practice.

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.

Objective To determine whether abnormal EEG and neuroimaging are to be considered as valuable predictors for intractable epilepsy and to identify such electroencephalographic and radiological abnormalities associated with medical intractability in children with epilepsy. Methods All children who had a diagnosis of epilepsy in Hamad general hospital before age 5 years from January 2012 till December 2013 were studied; their EEG and neuroimaging results were evaluated and assessed in regard to their long-term epilepsy control. Results Around 90% of children fulfilling diagnosis of intractable epilepsy were below 3 years of age. Male to female ratio was 2:3. 67% of patients cohort had initial abnormal neuro-imaging. More than 70% had abnormal EEG at begining of their illness. Conclusion Early observation and looking for the risk factors for intractable epilepsy may decrease the cost for health care utilization. Medical intractability in childhood epilepsy can be predicted by monitoring these factors, among these factors are: Diagnosis before age 12 months, Abnormal neuroimaging including congenital brain anomalies and acquired insult fallowing asphyxia and traumatic brain injury, and abnormal initial EEG including multifocal spike and wave and abnormal background

Objective To determine the prevalence of Neuro Imaging abnormality in Children (1 month to 14 years) with first afebrile seizure. To collect evidence sufficient to make a recommendation for the use of routine neuro-imaging in children with first episode of non-febrile seizure. Methods We have reviewed charts of all children who have presented to the Pediatric Emergency Centers (PECs) in Qatar with their first afebrile seizure during 2012–2013 years. Labeling and definition of seizure was up to the international league against epilepsy (ILAE) booklet. From those we have found that 96 of them underwent neuroimaging either on urgent or non-urgent basis. Patient demographics and neuroimaging were reviewed in details thereafter. Results In our study neuroimaging abnormalities were found in (33%) of children presented with their first Afberile seizure. Around ¼ of patients (27%) were below 2 years of age, who have demonstrated significantly higher percentage of abnormal imaging (59%). This risk has showed decreased as children get older. In regard to seizure semiology abnormal results were detected in a higher rates in focal seizures compared to generalized ones (35% Vs 31%). Also interesting higher rates of having abnormal neuroimaging results were noticed in those with who presented with status epilepticus (58%) as compared to (25%) in patients with short seizures. Conclusion Neuro-imaging should be considered in any and child with first afebrile seizure with those with underlying risk factors and in area having high prevalence of NCC, tuberculosis and it is highly recommended in younger infants and those with focal or prolonged seizures. Change in medical management depending on neuroimaging finding may be required in about 6–8% of all case with first afebrile seizures.