Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and neuroimaging. If primary biochemical investigations exclude precipitating conditions, a trial with the administration of a vitaminic compound (pyridoxine, pyridoxal-5-phosphate, or folinic acid) can then be initiated regardless of presumptive seizure causes. Patients with unclear etiologies should be considered for a further workup, which should include an evaluation for inherited metabolic defects and genetic analyses. Targeted next-generation sequencing panels showed a high diagnostic yield in patients with epileptic encephalopathy. Mutations associated with the emergence of epileptic encephalopathies can be identified in a targeted fashion by sequencing the most likely candidate genes. Next-generation sequencing technologies offer hope to a large number of patients with cryptogenic encephalopathies and will eventually lead to new therapeutic strategies and more favorable long-term outcomes.
Electroencephalography ; Epilepsy ; Genetics ; High-Throughput Nucleotide Sequencing ; Hope ; Humans ; Neuroimaging ; Psychomotor Disorders ; Seizures ; Vitamins

The children should not be regarded as miniature adults since they are in the dynamic process of growth and development. Among many pediatric problems, the developmental delay may be central to them. For this reason, primary care physicians, especially pediatricians should be able to manage children with probable developmental delays because early detection and treatment of developmental delay or neurological conditions can improve outcome. The tools presented here hopefully will do much for dealing with children with developmental delays or neurological conditions.
Adult ; Child ; Growth and Development ; Humans ; Infant, Newborn* ; Neurologic Examination* ; Physicians, Primary Care

PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) is one of the movement disorders in which dyskinesia occurs in a part of the body by a sudden movement after a rest under a tension or a stress. This study was aimed to evaluate the clinical features of children and adolescents with PKD in Korea via analysing the patients who have treated in Department of Pediatrics, Kyungpook National University Hospital. METHODS: A total of seven children with PKD was involved in the study and their medial records were retrospectively evaluated. RESULTS: The mean age of the 7 subjects was 15.7 years (10.0-21.4 years old). The male to female ratio was 6:1. They presented with dystonia with the average duration of 10.5 seconds (3.5-17.5 seconds), which triggered by various sudden movements. No accompanying cormorbidities were noted. Their laboratory findings were unremarkable. Six of the patients, except one who refused treatment with medicine, responded well to medication and remained symptom free. The average time response to medication was 3.4 weeks (0.95-7.81 weeks). They were of treated with either oxcarbazepine (n=4, 14.9+/-5.8 mg/kg/day) or lamotrigine (n=2, 1.5+/-0.9 mg/kg/day). There was no significant difference between two groups in terms of age, response, adverse events, and so on. CONCLUSION: This study showed that clinical features of Korean children with PKD are quite similar to those of other countries. They responded well to the medication. In addition, lamotrigine can be an alternative choice for the treatment.
Adolescent ; Carbamazepine ; Child ; Chorea ; Dyskinesias ; Dystonia ; Female ; Humans ; Korea ; Male ; Movement Disorders ; Pediatrics ; Retrospective Studies ; Triazines

OTC deficiency is an X-linked disorder in which the synthesis of urea is impaired. OTC catalyzes the synthesis of citrulline from carbamyl phosphate and ornithine. Complete or partial deficiencies of this enzyme may lead to Reye syndrome like picture such as encephalopathy, hepatic dysfunction, hyperammonemia, etc. We recently had a case that was presented as recurrent Reye syndrome, and was effectively treated with hemodialysis, arginine, sodium benzoate, etc. This report describes an experience in treating this condition with review of available literature.
Arginine ; Carbamyl Phosphate ; Citrulline ; Hepatic Encephalopathy ; Hyperammonemia ; Ornithine Carbamoyltransferase Deficiency Disease ; Ornithine Carbamoyltransferase* ; Ornithine* ; Renal Dialysis ; Reye Syndrome ; Sodium Benzoate ; Urea

PURPOSE: Restless legs syndrome (RLS) is a common neurologic sleep disorder, but it is frequently undiagnosed in Korean children. This study aimed to investigate clinical features of RLS in Korean children. METHODS: We reviewed the medical records of seven patients who had been diagnosed with RLS at the pediatric department of Kyungpook National University Hospital from March to September 2011. RESULTS: The mean age was 7.5+/-3.4 years (M:F=5:3). Chief complaints included abnormal movement during sleep (n=5, 71.4%), leg pain (n=1, 14.3%), and headache (n=1, 14.3%). Three showed inattention or hyperactivity, and one patient was taking medication for attention deficit hyperactivity disorder (ADHD). Six (85.7%) had sleep disturbance, and family history for RLS was positive in 3 (42.9%). Three patients (42.9%) showed a periodic limb movement index of 5 or more per hour of sleep that was compatible with supportive criteria of RLS. Serum testing, including a complete blood count, iron, total iron binding capacity, and ferritin, was performed. Among 5 children who demonstrated iron deficiency, 1 showed very low ferritin of 7 ng/mL, and after oral iron supplementation (3 mg/kg/day) over 1 month, there was dramatic improvement in leg pain and daytime behavior. Two patients who underwent treatment with pramipexole (0.125 mg) also had much improvement in sleep onset and daytime behavior. CONCLUSION: RLS can have a serious impact on quality of life in pediatric patients, so we need to find the children with RLS. Iron repletion therapy is effective for the patient with RLS who shows iron deficiency. In addition, use of a dopamine agonist is an effective treatment option for pediatric RLS.
Attention Deficit Disorder with Hyperactivity ; Benzothiazoles ; Blood Cell Count ; Child ; Dopamine Agonists ; Dyskinesias ; Extremities ; Ferritins ; Headache ; Humans ; Iron ; Leg ; Medical Records ; Quality of Life ; Restless Legs Syndrome

PURPOSE: The objective of this study was to describe polysomnographic charateristics in normal children and adolescents in Korea. Little is known regarding sleep architecture in Korean children. METHODS: We conducted a prospective study and examined sleep architecture, respiratory parameters, arousals, and periodic limb movement index during sleep (PLMS) in healthy children and adolescents for 2 consecutive days. RESULTS: The study population consisted of 29 subjects and 15 subjects (52%) were male. Ages ranged from 5-16 years, with a mean of 11.6+/-.7 years. The average total sleep time (TST) was 438+/-35.6 min, and the mean sleep efficiency was 90.9+/-17.7%. The distribution of sleep stages as percentage of TST was as follows: stage N1, 6.6+/-2.9%; stage N2, 54.2+/-5.8%; stage N3, 21.1+/-6.7%; and stage R, 18.1+/-5.4%. The wake after sleep onset (WASO) was 2.0+/-2.9% of TST. The total arousal index (TAI) was 7.6+/-2.2. The current study findings are similar to those of previous studies in Western countries except longer stage N2 sleep and higher WASO. CONCLUSION: This is the first report of normal polysomnography values in Korean children. In order to accurately diagnose sleep disorders, normative sleep reference values are essential and our findings will provide fundamental data for pediatric sleep research.
Adolescent* ; Arousal ; Child* ; Extremities ; Humans ; Korea ; Male ; Polysomnography ; Prospective Studies ; Reference Values ; Sleep Wake Disorders ; Sleep Stages

Neurologic complications of children with influenza A H1N1 2009 pandemic, diagnosed in two consecutive influenza seasons were retrospectively reviewed to seek better outcomes in future outbreaks. Patient demographics, clinical manifestations and neurologic outcomes were reviewed. A total of 1,389 children were diagnosed with influenza A H1N1 by real-time reverse transcriptase-polymerase chain reaction. Of these, 23 (1.7%) patients had neurologic involvement. Their mean age was 5.9 +/- 3.6 yr (range, 6 months to 11 yr) and 16 (69.9%) were boys. None of the 23 patients had been vaccinated for influenza A H1N1 and seasonal influenzas. Twenty-two of the 23 patients presented with seizures. Clinical features included febrile convulsion (n = 19), afebrile convulsion (n = 1), aseptic meningitis (n = 1), encephalopathy (n = 1), and acute necrotizing encephalopathy (n = 1). They all were treated with Oseltamivir twice daily for 5 days immediately after nasal and throat swab testing. Twenty-one of the subjects recovered fully, but the youngest two infants experienced severe neurological sequelae. The results indicate that neurologic complications associated with influenza A H1N1 2009 pandemic were mostly mild, but rarely were serious. Prompt intervention leads to a better outcome and vaccination may prevent the disease, thus staving off serious neurological complications following influenza, especially in young infants.
Antiviral Agents/therapeutic use ; Child ; Child, Preschool ; Electroencephalography ; Female ; Humans ; Infant ; Influenza A Virus, H1N1 Subtype/*genetics ; Influenza, Human/*complications/drug therapy/*epidemiology ; Magnetic Resonance Imaging ; Male ; Oseltamivir/therapeutic use ; Pandemics ; Republic of Korea/epidemiology ; Retrospective Studies ; Seizures/*etiology

Purpose: Coronavirus disease 2019 (COVID-19) can be associated with neurological complications. This study investigated the impact of COVID-19 outbreaks on seizure incidence and duration in children in Korea. Methods: We retrospectively analyzed medical records from Kyungpook National University Children’s Hospital, including 768 children with seizures during the peak COVID-19 outbreaks in March and August 2022, and compared patterns with the same periods in 2021. We examined demographic and clinical characteristics, causes of seizures, underlying conditions, seizure durations, and COVID-19 test results. Results: Out of 16,373,836 COVID-19 cases during the first peak, 25.6% were children (4,184,383), and during the second peak, 20.5% of 6,400,244 cases were children (1,314,331). No significant age differences were observed between either peak and the previous year. However, when compared to the previous year, febrile seizures (FS) were more common during both peaks (25.9% vs. 65.1% in the first peak; 34.3% vs. 59.2% in the second peak). The prevalence of FS was significantly higher in the COVID-19-positive group (84.1%) than in the COVID-19-negative group (51.9%). The incidence of new-onset seizures or breakthrough seizures showed no significant difference. Seizure duration and the incidence of status epilepticus (SE) showed no significant changes, but SE was more common in the COVID-19-negative group (17.1% vs. 6.2%). The clinical features of FS were similar in both groups. Conclusion COVID-19 appeared to increase the risk of FS in children, but there was no significant impact on the risk of breakthrough seizures or SE in children with epilepsy. Nevertheless, larger-scale studies are necessary.

PURPOSE: Although benign rolandic epilepsy (BRE) is a benign condition, it may be associated with a spectrum of behavioral, psychiatric, and cognitive disorders. This study aimed to assess the cognitive and other neuropsychological profiles of children with BRE. METHODS: In total, 23 children with BRE were consecutively recruited. All children underwent sleep electroencephalography (EEG) and were assessed on a battery of comprehensive neuropsychological tests including the Korean versions of the Wechsler intelligence scale for children III, frontal executive neuropsychological test, rey complex figure test, Wisconsin card sorting test, attention deficit diagnostic scale, and child behavior checklist scale. RESULTS: The study subjects included 13 boys and 10 girls aged 9.0+/-1.6 years. Our subjects showed an average monthly seizure frequency of 0.9+/-0.7, and a majority of them had focal seizures (70%). The spike index (frequency/min) was 4.1+/-5.3 (right) and 13.1+/-15.9 (left). Of the 23 subjects, 9 showed frequent spikes (>10/min) on the EEG. The subjects had normal cognitive and frontal executive functions, memory, and other neuropsychological sub-domain scores, even though 8 children (35%) showed some evidence of learning difficulties, attention deficits, and aggressive behavior. CONCLUSION: Our data have limited predictive value; however, these data demonstrate that although BRE appears to be benign at the onset, children with BRE might develop cognitive, behavioral, and other psychiatric disorders during the active phase of epilepsy, and these problems may even outlast the BRE. Therefore, we recommend scrupulous follow-up for children with BRE.
Aged ; Attention Deficit Disorder with Hyperactivity ; Checklist ; Child ; Child Behavior ; Cognition ; Electroencephalography ; Epilepsy ; Epilepsy, Rolandic ; Executive Function ; Humans ; Intelligence ; Intelligence Tests ; Learning ; Memory ; Neuropsychological Tests ; Seizures ; Wisconsin

PURPOSE: Sleep disorders are one of the most common neurologic conditions in children and adolescents. They have an important impact on quality of their life, such as physical, psychosocial and emotional problems. This study was aimed to investigate clinical and polysomnographic features of sleep disorders in Korean children and adolescents. METHODS: Thirty two patients with sleep disorders were involved in the study. Their medical records and polysomnographs(PSG) were retrospectively reviewed. RESULTS: The mean age was 10.1+/-4.2 years, and the male to female ratio was 2.6. Chief complaints included abnormal movement during sleep(n=12, 37.5%), snoring with sleep apnea(n=9, 28.1%), excessive daytime sleepiness(n=8, 25.0%). Among 12 patients who showed abnormal behaviors during the sleep, 7 patients were diagnosed as parasomnia and 4 patients as epilepsy, 1 as sleep apnea by polysomnographic findings. Eight out of nine patients with sleep apnea and snoring revealed increased apnea-hypopnea index(AHI>1). As a result, 4 patients had tonsillectomy & adenoidectomy(T&A) and 2 patients had uvulopalatopharyngoplasty (UPPP) with good results. Among 8 patients with excessive daytime sleepiness, 4 patients were diagnosed with narcolepsy by PSG and multiple sleep latency test (MSLT). They were treated with modafinil and scheduled nap. CONCLUSION: In this study, we found there are various kinds of sleep disorders in Korean children and adolescents and PSG is still a very important diagnostic tool. However, further studies are needed to elucidate sleep disorders in them.
Adolescent ; Benzhydryl Compounds ; Child ; Dyskinesias ; Epilepsy ; Female ; Humans ; Male ; Medical Records ; Narcolepsy ; Parasomnias ; Polysomnography ; Retrospective Studies ; Sleep Apnea Syndromes ; Sleep Wake Disorders ; Snoring ; Tonsillectomy