ABSTRACT
Epileptic encephalopathy (EE) is a devastating pediatric disease that features medically resistant seizures, which can contribute to global developmental delays. Despite technological advancements in genetics, the neurobiological mechanisms of EEs are not fully understood, leaving few therapeutic options for affected patients. In this review, we introduce the most common EEs in pediatrics (i.e., Ohtahara syndrome, Dravet syndrome, and Lennox-Gastaut syndrome) and their molecular mechanisms that cause excitation/inhibition imbalances. We then discuss some of the essential molecules that are frequently dysregulated in EEs. Specifically, we explore voltage-gated ion channels, synaptic transmission-related proteins, and ligand-gated ion channels in association with the pathophysiology of Ohtahara syndrome, Dravet syndrome, and Lennox-Gastaut syndrome. Finally, we review currently available antiepileptic drugs used to treat seizures in patients with EEs. Since these patients often fail to achieve seizure relief even with the combination therapy, further extensive research efforts to explore the involved molecular mechanisms will be required to develop new drugs for patients with intractable epilepsy.
ABSTRACT
Epileptic encephalopathy (EE) is a devastating pediatric disease that features medically resistant seizures, which can contribute to global developmental delays. Despite technological advancements in genetics, the neurobiological mechanisms of EEs are not fully understood, leaving few therapeutic options for affected patients. In this review, we introduce the most common EEs in pediatrics (i.e., Ohtahara syndrome, Dravet syndrome, and Lennox-Gastaut syndrome) and their molecular mechanisms that cause excitation/inhibition imbalances. We then discuss some of the essential molecules that are frequently dysregulated in EEs. Specifically, we explore voltage-gated ion channels, synaptic transmission-related proteins, and ligand-gated ion channels in association with the pathophysiology of Ohtahara syndrome, Dravet syndrome, and Lennox-Gastaut syndrome. Finally, we review currently available antiepileptic drugs used to treat seizures in patients with EEs. Since these patients often fail to achieve seizure relief even with the combination therapy, further extensive research efforts to explore the involved molecular mechanisms will be required to develop new drugs for patients with intractable epilepsy.
ABSTRACT
PURPOSE@#To investigate the effect of vigabatrin (VGB) as a therapeutic agent for patients with infantile spasms (IS), compare risk factors for treatment response, and review safety of VGB by assessing its side effects.@*METHODS@#Among 35 patients admitted to the Department of Pediatric Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea who received initial monotherapy with VGB under diagnosis of IS, 23 patients who met our inclusion criteria were enrolled and their medical records were retrospectively reviewed.@*RESULTS@#Of these 23 patients, average age at diagnosis was 7.26±4.8 months and average age at spasms was 6.20±3.8 months. Average treatment lag was 1.09±1.8 months. Thirteen patients (56.5%) achieved seizure free status. There was no ophthalmic complication among patients. Remission of hypsarrhythmia at 3 and 6 months after treatment was a good prognostic factor (P=0.026 and P=0.004, respectively).@*CONCLUSION@#VGB is effective enough to become a first-line drug for children with IS. Better prognosis can be expected in patients with clinical remission of hypsarrhythmia on electroencephalography after treatment initiation using VGB compared to those who do not have such remission. Regular eye examination and follow-up check-up are also needed in parallel with the use of VGB.
ABSTRACT
This retrospective study was performed to determine the seroprevalence of hepatitis A virus (HAV) in children and adolescents with hematologic malignancies after the completion of chemotherapy and hematopoietic cell transplantation (HCT). Of 97 enrolled patients, 60 (61.9%) were seropositive for HAV. The seroprevalences in patients undergoing chemotherapy and HCT were 60.3% (41/68) and 65.5% (19/29), respectively (P = 0.628). No significant factors associated with seropositivity for HAV after chemotherapy and HCT were identified. Anti-HAV tests and HAV re-vaccinations can be considered in children and adolescents with underlying hematologic malignancies after chemotherapy and HCT based on the anti-HAV results.
ABSTRACT
PURPOSE: We analyze the brain magnetic resonance imaging (MRI) findings of children with epilepsy and concomitant attention deficit hyperactivity disorder (ADHD) to investigate the correlation between brain MRI and ADHD, and to determine whether abnormal MRI finding can be a risk factor for the development of ADHD. METHODS: A total of 55 patients (36 male, 19 female) were diagnosed as ADHD in children with epilepsy at the pediatric neurology department of Seoul St. Mary hospital from March, 2009 to December, 2013. The records of these patients were retrospectively reviewed. RESULTS: 29 patients (52.7%) had normal MRI findings, and 26 patients (47.3%) had abnormal MRI findings. The inattention type of ADHD (96.5%) was the largest type in a group of normal brain MRI findings, but the combined type (53.8%) and the inattention type (46.2%) occupied the majority in a group of abnormal MRI findings. The score of symptom in inattention was 7.44/9 in a group of normal MRI findings, while 8.2/9 in a group of abnormal MRI findings. And the score of symptom in hyperactivity was 2.93/9 in a group of normal MRI findings, while it was 4.8/9 in a group of abnormal MRI findings (P < 0.001). 7 patients (12.7%) revealed hippocampal sclerosis out of 26 abnormal MRI findings, and they had significantly higher scores of ADHD symptoms (8.57/9, 4.8/9) compared to normal group (7.83/9, 4.23/9). CONCLUSION: Abnormal MRI findings in children with epilepsy are not only closely related to ADHD but may also be associated with the severity of ADHD.