Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy.

Electrical status epilepticus during sleep (ESES) is an electrographic pattern associated with specific genetic disorders, brain malformations, and use of some antiseizure medications. This case report aims to present the management of ESES in Sotos syndrome (SoS) on carbamazepine. A nine-year-old Filipino male with clinical features suggestive of overgrowth syndrome presented with febrile seizure at one year old. Cranial imaging showed cavum septum pellucidum, corpus callosal dysgenesis, and ventriculomegaly. He was on carbamazepine monotherapy starting at three years old. A near continuous diffuse spike-wave discharges in slow wave sleep was recorded at nine years old hence shifted to valproic acid. Follow-up study showed focal epileptiform discharges during sleep with disappearance of ESES. Next generation sequencing tested positive for rare nonsense mutation of nuclear receptor binding set-domain protein 1 confirming the diagnosis of SoS. Advanced molecular genetics contributed to determination of ESES etiologies. To date, this is the first documented case of SoS developing ESES. Whether an inherent genetic predisposition or drug-induced, we recommend the avoidance of carbamazepine and use of valproic acid as first-line therapy.

Chiari malformation type III with satisfactory developmental progress postrepair.

The authors were presented with a term female neonate with a large occipital mass, who was already being treated for neonatal pneumonia at another hospital. On assessment, apart from the mass, the patient presented with an unremarkable systemic and neurological physical examination. She underwent repair of the occipital mass, which was complicated by nosocomial ventriculitis. However, the patient was discharged well after completing antibiotic treatment. On regular outpatient follow-ups, the patient presented with a good cry, suck, and activity. There have been no reports of seizures, decrease in sensorium, aspiration episodes, stridor or any other complaints, apart from poor head and sitting control. The workup also showed profound bilateral hearing loss. Despite these complications, the patient currently exhibits good visual and social development. This is attributed to timely intervention as well as the minimal amount of herniated cerebellar tissue that the patient presented with, highlighting the individualised management and outcomes for cases of Chiari malformation type III.

Role of Perampanel in the Management of Pediatric Epilepsies in Asia: Expert Opinion.

Management of pediatric epilepsies poses unique challenges around diagnosis, treatment options, comorbidities, and the potential for these factors to interact with processes in the developing brain. In pediatric patients, broad-spectrum antiseizure medications (ASMs) with minimal potential for adverse events (AEs) and limited impact on cognition and behavior are preferred. Perampanel is a first-in-class ASM with broad-spectrum efficacy, a tolerable safety profile, minimal negative impact on cognitive function, and other features that make it a viable treatment option in this patient population. However, evidence and experience of its use in pediatric patients are less extensive than in adult patients. Experts in pediatric epilepsy across the region convened at a series of meetings to discuss the use of perampanel in pediatric patients, including dose optimization, AE prevention and management, and considerations in particular groups. This article summarizes key evidence for perampanel in the pediatric population and consolidates the experts' recommendations for using the ASM in managing pediatric epilepsies.

Case of anti-NMDA receptor encephalitis in a female adolescent with favourable response to second-line treatment with cyclophosphamide.

We report the case of a female adolescent who presented with behavioural changes. She was admitted to our institution due to worsening psychiatric and neurological symptoms, subsequently diagnosed with anti-N-methyl-D-aspartate receptor encephalitis. Additional workup was facilitated to rule out a possible underlying teratoma, but all tests turned out unremarkable. First-line treatment with methylprednisolone pulse therapy and intravenous immunoglobulin was started, to which she showed marked improvement from baseline. One month after discharge, a decision for readmission was made because of persistent episodes of hallucinations, agitation and dyskinesias. In this case report, we highlight the use of cyclophosphamide over rituximab as second-line treatment in a resource-limited setting, owing to its greater availability and lesser cost. Cyclophosphamide treatment was given resulting in a more sustained clinical improvement with return to baseline function.

Clinical experience on the use of perampanel in epilepsy among child neurologists in the Philippines.

BACKGROUND: Perampanel is the latest anti-seizure medication introduced in the Philippines in 2015. This was initially approved as an adjunctive treatment for focal seizures and those with secondary generalization among individuals 12 years old and above. By March 2020, it has been approved also for generalized seizures and in children 4 years and above. The general objective of this research is to describe the clinical experience of Filipino child neurologists on the use of perampanel in children. METHODS: This is a cross-sectional descriptive study that surveyed child neurologists with review of medical records of children who have received perampanel as either an adjunctive therapy or monotherapy for epilepsy. RESULTS: There were 65 patients included in the study aged 1 to 18 years with a mean age of 10.0 ± 5.2 years and a median of 10 years. Follow-up duration were between 2 weeks to more than a year. Perampanel was started in 98.5% as an add-on treatment between 5 months and 18 years of age. The responder rate is 69.2% (45/65), seizure-free rate is 29.2% (19/65), seizure-aggravation rate is 9.2% (6/65), and perampanel retention rate is 83.1% (54/65). Treatment emergent adverse events were noted in 53.8% of the children with somnolence (20.0%), gait problems (12.3%), weight gain (10.8%) and dizziness (9.2%) as the most common events experienced. Dizziness was experienced significantly more among children 12 to 18 years of age. CONCLUSION: Perampanel is seen to be effective and relatively safe to use among Filipino children.