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

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

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

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: This study was aimed to compare the effectiveness and tolerability of topiramate add-on therapy versus lidocaine add-on therapy in children with refractory status epilepticus. METHODS: We performed a retrospective analysis of children with refractory status epilepticus who were hospitalized at Kyungpook National University Hospital during the period 2005 to 2012. We divided them into two groups, Group A (midazolam, MDZ, and Topiramate, TPM:11 patients) and Group B (midazolam and lidocaine, LDC:7 patients). Furthermore, they were sub-categorized according to children's sex, age, seizure duration, and seizure type. To comepare the effectiveness and tolerability between the two groups, we evaluated seizure freedom, >50% seizure reduction, adverse events and mortality rates, respectively. RESULTS: In MDZ/TPM group, average dosage of midazolam infusion was 10.8+/-6.8 mcg/kg/min, seizure freedom was achieved in 1 out of 11 patients (9%) and >50% seizure reduction was in 2 out of 11 patients (18%). On the other hand, in MDC/LDC group, average dosage of midazolam infusion is 11.3+/-5.2 mcg/kg/min, seizure freedom was achieved in 2 out of 7 patients (29%) and >50% seizure reduction was 3 out of 7 patients (43%). Aside from the promising effects, there was no significant difference between the two groups. CONCLUSION: In children with refractory status epilepticus, topiramate or lidocaine add-on therapy seemed to be effective and fairly tolerated and showed no serious adverse effects. Therefore they can be an alternative treatment option. However, further studies are required.
Child* ; Freedom ; Gyeongsangbuk-do ; Hand ; Humans ; Lidocaine* ; Midazolam ; Mortality ; Retrospective Studies ; Seizures ; Status Epilepticus*

PURPOSE: This study was aimed to evaluate the effectiveness and safety of midazolam infusion and topiramate add-on therapy for refractory status epilepticus (RSE) in children. METHODS: Nineteen children were involved in the study and their clinical data were retrospectively analyzed. After failure of initial conventional treatment, all of the children were given midazolam (MDZ) infusion, titrated until a response is achieved or maximum dose of 20 mcg/kg/min. Eleven children were given additional topiramate (TPM) at 1-2mg/kg/day by nasogastric and titrated to the favorable response every 1-3 days. We subdivided the children into 2 groups by whether TPM added (TPM group) or not (MDZ group) and compared them each other. RESULTS: The age of subjects ranged from 2 to 175 months (54.9+/-53.3 months; male 10, female 9). Seizure duration of initial presentation ranged from 30 to 1,440 minutes (218.4+/-432.9 minutes). Seizure types were convulsive in 16 children (84%) and 3 were non-convulsive (16%). In the MDZ group (4.0+/-2.9 mcg/kg/minutes), time to seizure control ranged from 1 day to 2 days (1.1+/-0.4 days), but seizures recurred in 50 %. In the TPM group (6.3+/-1.5 mg/kg/day), time to seizure control ranged from 1 day to 5 days (1.9+/-1.5 days), but seizures recurred in 36%. 1 child (5.3%) died of sepsis and 7 children (36.8%) experienced cardio-respiratoty compromise. 7 children (63.6%) in the TPM group recovered completely to baseline neurological function. CONCLUSIONS: The results indicate that midazolam infusion is still the mainstay of treatment, but TPM add-on therapy seems to be a useful option in RSE. However, further studies are needed to establish its precise role and safety.
Child ; Female ; Fructose ; Humans ; Male ; Midazolam ; Retrospective Studies ; Seizures ; Sepsis ; Status Epilepticus

PURPOSE: The aim of this study was to investigate the clinical characteristics and causative organisms of meningitis in the Daegu region and seek a useful tool for the early prediction of bacterial meningitis in children. METHODS: We retrospectively reviewed the medical records of 115 pediatric patients diagnosed with bacterial or aseptic meningitis at Yeungnam university hospital in Daegu from March 2012 to July 2013. We evaluated their clinical symptoms, laboratory findings, clinical courses, bacterial meningitis scores and complications. RESULTS: The subjects included 106 with aseptic meningitis and 9 with bacterial meningitis. At the time of visit, fever was the most frequent symptom, followed by headache, vomiting and neck stiffness. In cerebrospinal fluid (CSF) analysis, white blood cell (WBC) count were higher in the bacterial meningitis group (1423.8+/-1980.4 vs. 120.0+/-161.6 mg/dL). Mean CSF protein was 219.4+/-183.6 mg/dL in bacterial meningitis and 42.4+/-27.0 mg/dL in aseptic meningitis (P <0.001). Bacterial meningitis score (BMS) were higher in the group with bacterial meningitis. Abnormal radiological findings were found in 44% of the group with bacterial meningitis. CONCLUSION: Although the clinical features between the groups were similar, the CSF analysis revealed significant differences statistically. Furthermore, BMS could be helpful to predict bacterial meningitis in children. During the outbreak of aseptic meningitis, it might reduce unnecessary hospital admissions and antibiotic treatments.
Cerebrospinal Fluid ; Child ; Daegu ; Fever ; Headache ; Humans ; Leukocytes ; Medical Records ; Meningitis ; Meningitis, Aseptic* ; Meningitis, Bacterial ; Neck ; Retrospective Studies ; Vomiting