Spatiotemporal distribution and age of seizure onset in a pediatric epilepsy surgery cohort with cortical dysplasia.

OBJECTIVE: Focal Cortical Dysplasias (CD) are a common etiology of refractory pediatric epilepsy and are amenable to epilepsy surgery. We investigated the association of lesion volume and location to age of seizure onset among children with CD who underwent epilepsy surgery. METHODS: A retrospective study of epilepsy surgery patients with pathologically-confirmed CD. Regions of interest (ROI) determined preoperative lesion volumes on 1.5 T and 3 T T2 and SPGR MRIs, and location in 7 distributed neural networks. Descriptive and inferential statistics were used. RESULTS: Fifty-five patients were identified: 35 girls (56.5 %). Median age of seizure onset: 19.0 months (range 0.02 months - 16.0 years). Median age of surgery: 7.8 years (range 2.89 months - 24.45 years). CD were frontal (n = 21, 38 %); temporal (n = 15, 27 %); parietal (n = 10, 18 %); occipital (n = 3, 5%); multilobar (n = 6, 11 %). Frontal FCD had seizure onset < 1-year-old (P = 0.10); temporal lobe CD seizure onset was more likely > 5-years-old (P= 0.06). Median lesion volume for CD was 23.23 cm3 (range: 1.87-591.73 cm3). Larger CD lesions were associated with earlier epilepsy (P = 0.01, r = -0.16). We did not find that lesions proximal to early maturing cortical regions were associated with earlier seizure onset. We found an association with CD location in the default mode network (DMN) and age onset < 5years old (P = 0.03). Age of seizure onset was negatively correlated with percent of CD overlapping motor cortex (P = 0.001, r =-0.794) but not with CD overlap of the visual cortex (P = 0.35). There was no effect of CD type on age of epilepsy onset. SIGNIFICANCE: Larger CD lesions are associated with earlier onset epilepsy. CD most commonly occurs within the DMN and Limbic network, and DMN is associated with seizure onset before 5-years-old. Percent of CD overlapping motor cortex correlates with earlier seizure onset. These observations may reflect patterns of brain maturation or regional differences in clinical expression of seizures.

A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent.

BACKGROUND: GABAA receptors are ligand-gated chloride channels that regulate inhibitory neurotransmission in the central nervous system. Recently, monoallelic de novo mutations in GABRA5 resulting in altered inhibitory synapses were found in three patients with developmental and epileptic encephalopathy. Patient description: We report on a four-year and six-month-old girl with epilepsy and global developmental delay. Serial head growth measurement revealed postnatal onset microcephaly. RESULTS: Magnetic resonance imaging (MRI) of the brain was normal at the age of eight months and subsequently showed a decrease in white matter volume and thin corpus callosum at the age of 3 years. Using whole-genome sequencing, we identified the fourth patient harboring a de novo missense mutation in GABRA5. Interestingly, the c.880G > C (p.V294F) affects the same position found in two of the three previously reported patients. CONCLUSION: This study suggests that the nucleotide c.880G is a mutation hotspot. Our patient also demonstrated significant seizure reduction after benzodiazepine. To our knowledge, this is the first case describing the favorable outcome of a GABAergic agent in seizure control for GABRA5-related developmental and epileptic encephalopathy.

Heterogenous treatment for anti-NMDAR encephalitis in children leads to different outcomes 6-12 months after diagnosis.

Recommended first line treatment in anti-NMDAR encephalitis includes steroids, IVIG, or plasma exchange. However, IVIG is non-reimbursable through Thailand's Universal Health Coverage. This study investigated outcomes from different treatments for anti-NMDAR encephalitis. Nineteen children in three treatments group: steroid alone, IVIG alone, and IVIG and steroid were reviewed. IVIG was administered to 13 (68%) and 6 (32%) only received steroids. Those receiving IVIG treatment with or without steroids had greater improvement in mRS at 6 (p = 0.04) and 12 months (p = 0.03). Such findings suggest the benefits of IVIG treatment for this condition despite the higher immediate cost.

Demographics, clinical features, outcome and prognostic factors of Guillain-Barre syndrome in Thai children.

OBJECTIVE: To describe demographics, clinical profiles, management, outcomes and to determine factors associated with severity in Guillain-Barre Syndrome (GBS). MATERIAL AND METHOD: Medical records of GBS patients in Queen Sirikit National Institute of Child Health during 2000-2009 were searched. The data included demographics, clinical features, management and outcomes after 6 months to determine prognostic factors. RESULTS: Forty-eight patients with GBS were studies. Mean age of onset was 5 years. Male and female ratio was 1.4:1. History of antecedent infection was 73%. Clinical presentations included limb weakness 100%, respiratory distress 27%, facial palsy 27%, autonomic nervous dysfunction 22% and ataxia 17%. Nerve conduction study revealed demyelinating process in 57%, axonopathy in 26% and mixed type in 17%. Clinical outcomes were satisfactory in most of the patients except three patients who still had disability eighteen months after onset. Autonomic nervous dysfunction was a significant factor to determine the severity. CONCLUSION: The demographic and clinical features of GBS were similar to other published studies. The autonomic nervous dysfunction was a significant predictor for adverse clinical course. All but three patients had complete, full recovery.

Quality of life in adolescent absence epilepsy at Queen Sirikit National Institute of Child Health.

OBJECTIVE: To compare the QoL between adolescents with absence epilepsy and the other types of epilepsies. MATERIAL AND METHOD: A prospective cohort study was conducted in adolescents aged 10-18 years that have been diagnosed with epilepsy at QSNICH between 2000 and 2012. The QoL was assessed using the QoLIE-AD-48, Thai version. RESULTS: Seventy-three adolescents were included in this study, of which 27 had absence epilepsy. The mean total QoLIE-AD-48 score was 63.94 (17.14). The absence group had a mean score of 74.45 (9.83), while the non-absence group had a score of 57.78 (17.57), p-value < 0.001. CONCLUSION: The QoL of adolescents with inactive absence epilepsy was significantly higher than those suffering with other types of epilepsy. The QoL in this study was similar to prior studies.

Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report.

The authors report the clinical features, electroencephalography (EEG), neuroimaging (brain magnetic resonance image-MRI), and cytogenetic findings of a young female patient with rare cytogenetic anomalies characterized by de novo 46, XX, r (20) (p13q13.3). The patient had a history of mild mental retardation, emotional liability and intractable epilepsy with non-convulsive status epilepticus. The MRI brain showed focal cerebral dysplasia over the left temporal region. The multiple seizures were refractory to antiepileptic medications and prolonged, confused state with or without a motor component. The continuous video-EEG monitor showed epileptiform discharges over bilateral frontal regions with frontal origin. The symptoms were relieved after midazolam infusion. A patient who was present with intractable epilepsy with continuous frontal epileptiform discharges, mental retardation, abnormal behavior, without dysmorphic features should be suspected of chromosomal abnormalities especially ring chromosome 20.