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: 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

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

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

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

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: Neonatal strokes are common and may be associated with various complications. However, few studies have been conducted on the clinical spectrum in Korea. This study aimed at investigating the clinical presentation and neurological outcome of neonatal strokes. METHODS: Twenty-seven neonates with neonatal stroke were enrolled in the neonatal intensive care unit at Kyungpook National University Hospital from January 2000 to December 2009. Their medical records and neuroradiological findings were retrospectively reviewed. RESULTS: The mean age of the subjects was 4+/-5.6 days. Sixteen patients were full term, nine were prematurite and six had low birth weights. The onset of symptoms was mostly within first week (85.2%) of life, especially in the first day of life (51.9%). The most common symptom was seizure (40.7%), which were focal clonic (38.5%) or multifocal clonic (38.5%). Nine patients showed abnormal EEG findings. Thirteen patients had subdural hemorrhage, seven showed intraventricular hemorrhage, and three revealed cerebral infarction. Among 12 patients who followed-up for one year, four had mild neurologic dysfunction and two had severe impairment. CONCLUSION: We found that the onset of symptom in neonatal strokes was mostly within the first day of life, and the most common symptom was focal seizure. We, therefore recommend that neuroimaging be done when newborns have seizures within their first week of life. However, further studies are needed to elucidate this further.
Cerebral Infarction ; Electroencephalography ; Hematoma, Subdural ; Hemorrhage ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Infarction ; Intensive Care, Neonatal ; Korea ; Medical Records ; Neuroimaging ; Neurologic Manifestations ; Retrospective Studies ; Seizures ; Stroke

PURPOSE: Hospital readmissions have recently increased due to early hospital discharge and increased trends in breast-feeding. Neonatal hyperbilirubinemia can lead to fatal permanent neurological sequelae without appropriate management. Early detection and intervention are critical. We evaluated the clinical features, risk factors, and brain MRI findings of Korean newborns with idiopathic nonhemolytic hyperbilirubinemia to determine the optimal management policy. METHODS: A retrospective review of the medical records of 79 newborns with idiopathic nonhemolytic hyperbilirubinemia was performed at the NICU of the Kyungpook National University Hospital from January 2006 to September 2009. All patients were 35 or more weeks of gestation, and their peak level of serum total bilirubin was more than 20 mg/dL. RESULTS: The mean gestational age was 38(+3)+/-1(+4) weeks, and the mean age on admission was 8.8+/-4.0 days. The mean body weight (3,105+/-479 g) was decreased by 2.8+/-6.4 percent compared to the mean birth weight (3,174+/-406 g). There were no statistically significant differences for the peak serum bilirubin level or the duration and effects of phototherapy between the patients with and without risk factors, which included: breastfeeding, cephalohematoma, subdural hemorrhage, and/or ABO incompatibility. Patients were grouped according to change of body weight. Group I consisted of patients that gained weight compared to birth weight, and group II of patients that lost weight compared to birth weight. There were significant differences in the peak serum total bilirubin level between the two groups. Thirty nine patients had brain MRI evaluation; 21 patients had bilateral symmetric signal intensity increases in the globus pallidus compared to adjacent corticospinal tract and putamen on T1-weighted images. CONCLUSION: Bilirubin encephalopathy is preventable with early screening and proper management. Parents require instruction on feeding practices and follow-up to prevent complications from idiopathic nonhemolytic hyperbilirubinemia.
Bilirubin ; Birth Weight ; Body Weight ; Brain ; Breast Feeding ; Follow-Up Studies ; Gestational Age ; Globus Pallidus ; Hematoma, Subdural ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Neonatal ; Infant, Newborn ; Kernicterus ; Mass Screening ; Medical Records ; Parents ; Patient Readmission ; Phototherapy ; Pregnancy ; Putamen ; Pyramidal Tracts ; Retrospective Studies ; Risk Factors