• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.565-570
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• 2010

Purpose : To verify the efficacy and safety of lamotrigine (LTG) monotherapy in newly diagnosed children with epilepsy. Methods : We prospectively enrolled 148 children who had undergone LTG monotherapy at our institution between September 2002 and June 2009. Twenty-nine patients were excluded: 19 due to incomplete data and 10 were lost to follow up. The data of the remaining 119 patients was analyzed. Results : We enrolled 119 pediatric epilepsy patients (aged 2.8-19.3 years; 66 males and 53 females) in this study. Out of 119 patients, 29 (25.2%) had generalized epilepsy and 90 (74.8%) had partial epilepsy. The responses of seizure reduction were as follows: Seizure freedom (no seizure attack for at least 6 months) in 87/111 (78.4%, n=111) patients; partial response (reduced seizure frequency compared to baseline) in 13 (11.7%) patients; and persistent seizure in 11 (9.9%) patients. The seizure freedom rate was in 81.6% in patients with partial seizure (75.9% for complex partial seizure and 90.9% for benign rolandic epilepsy) and 44.8% in patients with generalized epilepsy (30.0% for absence seizure, 35.7% for juvenile myoclonic epilepsy patients, and 100.0% for idiopathic generalized epilepsy patients). Adverse reactions were reported in 17 (14.3%) patients, and 8 patients (6.7%) discontinued LTG because of rash and tic. No patient experienced severe adverse reaction such as Stevens-Johnson syndrome. Conclusion : LTG showed excellent therapeutic response and had few significant adverse effects. Our findings report may contribute in promoting the use of LTG monotherapy in epileptic children.

• Clinical and Experimental Pediatrics
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• v.48 no.2
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• pp.204-207
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• 2005

Ketogenic diet is a high-fat, low-carbohydrate, low-protein diet used in the treatment of epilepsy since 1920's. Recently, it's use for intractable epilepsy in childhood has increased. Complications of ketogenic diet are known to include dehydration, vomiting, diarrhea, renal stones, metabolic derangement, hypercholesterolemia and refusal to eat. We experienced two cases of renal stones in children with intractable epilepsy during ketogenic diet.

• Clinical and Experimental Pediatrics
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• v.60 no.6
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• pp.189-195
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• 2017

Purpose: The purpose of this study was to investigate the effects of lamotrigine for the treatment of attention-deficit hyperactivity disorder (ADHD) symptoms in children with epilepsy. Methods: Pediatric patients newly diagnosed with epilepsy (n=90 [61 boys and 29 girls]; mean age, $9.1{\pm}3.4years$) were enrolled. All patients were evaluated with the Korean ADHD rating scale (K-ARS)-IV before treatment with lamotrigine and after doses had been administered. The mean interval of ADHD testing was approximately 12.3 months. The initial dosage of lamotrigine was 1 mg/kg/day (maximum 25 mg/day for the first 2 weeks), and increased by 1 mg/kg every 2 weeks until titrated up to 7 mg/kg/day (or maximum 200 mg/day). Results: The mean ADHD test score of the 90 subjects was $17.0{\pm}1.8$ at baseline. It was slightly reduced to $15.6{\pm}1.7$ after lamotrigine monotherapy (P>0.01). Prior to treatment, a total of 31 patients (34.4%) met the diagnostic criteria for ADHD according to Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision, Of these 31 patients, 27 (87.1%) had significantly improved ADHD scores with lamotrigine monotherapy ($28.0{\pm}1.6$ reduced to $18.1{\pm}2.6$, P<0.001). Among these 27 patients, 25 (92.6%) showed normalized electroencephalogram (EEG) and 26 (96.3%) achieved total freedom from seizures within 12 months of the initiation of lamotrigine monotherapy. Conclusion: The results from our study show that lamotrigine had a positive effect in pediatric epilepsy patients by reducing ADHD symptoms, preventing seizures, and normalizing EEG. However, further research is required to determine whether lamotrigine is efficacious against ADHD symptoms independent of its effects on epileptic seizures.

• Clinical and Experimental Pediatrics
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• v.50 no.7
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• pp.672-677
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• 2007

Purpose : To assess the prevalence and characteristics of headache comorbidity with epilepsy in children and adolescents in a specialty epilepsy clinic. Methods : Two hundred twenty nine consecutive patients attending the Chosun University Hospital Pediatric Epilepsy Clinic (mean age $10.0{\pm}4.1\;years$, range 4-17, M:F ratio 1.1:1.0) were interviewed with a standardized headache questionnaire. Headache was classified according to the International Classification of Headache Disorders, 2nd Edition and epilepsy was classified according to the International League Against Epilepsy. Disability was assessed using pediatric migraine disability assessment (PedMIDAS). Results : Of the 229 epilepsy patients, 86 (37.6%) had co-morbid headache. Of the headache patients, 64 (74.4%) had migraine (65.6%- migraine without aura, 20.3% - migraine with aura, 14.1% - probable migraine). The mean headache frequency was $7.2{\pm}8.4$ per month, mean duration was $2.2{\pm}4.0$ hours, mean severity was $5.2{\pm}2.2$ out of 10, and mean PedMIDAS score was $13.0{\pm}35.4$. The proportion of females was not higher in epilepsy with headache patients (48.8%) compared to epilepsy patients alone (48.0%). In the patients with migraine, 48.4% had complex partial seizures, 17.2% had simple partial seizures, and 34.4% had generalized seizures (P=0.368). A postictal association of migraine was reported in 18.8% with 17.2% reporting a preictal headache, and 7.8% reporting an ictal headache. Conclusion : The prevalence of headache in pediatric epilepsy is higher than that in general pediatric population, suggesting a co-morbidity of headache in epilepsy patients with migraine being the most frequent headache disorder. Altered cerebral excitability resulting in an increased occurrence of spreading depression may explain the headache comorbidity with epilepsy. Further studies are needed to assess the etiology of this co-morbidity as well as assess the frequency, duration, severity and disability response to antiepileptic drugs.

• Journal of Korean Neurosurgical Society
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• v.44 no.4
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• pp.234-239
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• 2008

Objective : There are a few reports on the complications of surgery for epilepsy. We surveyed our data to present complications of epilepsy surgeries from the neurosurgeon's point of view and compare our results with other previous reports. Methods : A total of 179 surgical procedures for intractable epilepsy (41 diagnostic, 138 therapeutic) were performed in 92 consecutive patients (10 adults, 82 children) during the last 9.2 years (February. 1997-April. 2006). Their medical records and radiological findings were reviewed to identify and analyze the surgical complications. Results : The diagnostic procedures encompassed various combinations of subdural grid, subdural strips, and depth electrodes. Four minor transient complications developed in 41 diagnostic procedures (4/41=9.8%). A total of 138 therapeutic procedures included 28 anterior temporal lobectomies, 21 other lobectomies, 6 lesionectomies, 21 topectomies, 13 callosotomies, 20 vagus nerve stimulations, 13 multiple subpial transections, and 16 hemispherectomies. Twenty-six complications developed in therapeutic procedures (26/138=18.8%). Out of the 26 complications, 21 complications were transient and reversible (minor; 21/138=15.2%), and 5 were serious complications (major; 5/138=3.6%). Five major complications were one visual field defect, two mortality cases and two vegetative states. There were 2 additional mortality cases which were not related to the surgery itself. Conclusion : Our results indicate that complication rate was higher than previous other reports in minor complications and was comparable in major complications. However, our results show relatively high frequency of mortality cases and severe morbidity case compared to other previous reports. The authors would like to emphasize the importance of acute postoperative care in young pediatric patients as well as meticulous surgical techniques to reduce morbidity and mortality in epilepsy surgery.

• Korean Journal of Clinical Laboratory Science
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• v.38 no.2
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• pp.141-146
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• 2006

Vagal nerve stimulation (VNS) has been proposed as a possible way to improve the control of refractory epilepsy. We report the effects following VNS treatment in patients with refractory epilepsy. Seventeen patients with a mean age of 12.8 years, ranging from 5 to 29 years, underwent the implantation of vagal nerve stimulation (Cyberonics, Houston, TX). We reviewed the clinical findings before and after VNS in seizure frequency, number of antiepileptic drugs (AED), and quality of life (QOL). All of the patients had intractable seizures, eleven of the patients had additional medical complications, three had hippocampus atrophy, one had encephalomalacia, five had encephalitis, one had pachygyria, and one had schizencephaly. Thirteen patients had symptomatic partial epilepsies, three patients had Lennox-Gastaut syndrome and one had cryptogenic partial epilepsy. The mean follow up duration was 35 months. The mean reduction of seizure frequency compared with baseline before VNS was 26.1% after 3 months (p<0.005), 41.9% after 6 months (p<0.001), 46.9% after 1 year (p<0.001), and 53% at the latest follow-up (p<0.001). Twelve patients showed an improvement of QOL such as mood, language, alertness, expression, and motor function. The most common side effects were transient hoarseness or voice change or cough, which was detected in six patients (35%) and wound infection in one patient (5%). This study has shown a good anti-seizure effect of VNS, decrease in seizure frequency and improvements in QOL. We concluded that VNS is a beneficial therapy in refractory epilepsy with a non-resectable epileptic focus. Further studies should be focused on the prediction of unresponsiveness and the adjustment of VNS parameters for maximum efficacy in patients with various medical histories.

• Journal of Yeungnam Medical Science
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• v.2 no.1
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• pp.103-111
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• 1985

Childhood epilepsy which has high prevalence rate and inception rate is one of the commonest problem encountered in pediatrician. In contrast with epilepsy of adult, in childhood epilepsy, more variable and varying manifestations are found because the factors of age, growth and development exert their influences in the manifestations and the courses of childhood epilepsy. Moreover epileptic children have associated problems such as physical and mental handicaps, psychologicaldisorders and learning disability. For these reasons pediatrician who deals with epileptic children experiences difficulties in making diagnosis and managing them. In order to improve understanding and management of childhood epilepsy, authors reviewed 103 cases of epileptic patients seen at pediatric department of Yeungnam University Hospital retrospectively. The patients were classified according to the type of epileptic seizure. Suspected causes of epilepsy, associated conditions of epileptic patients, age incidence and the findings of brain CT were reviewed. Large numbers of epileptic patients (61.2%) developed their first seizures under the age of 5. The most frequent type of epileptic seizure was generalized ionic-clonic, tonic, clonic seizure (49.5%), followed by simple partial seizure with secondary generalization (17.5%), simple partial seizure (7.8%), a typical absence (5.8%) and unclassified seizure (5.8%). In 83.5% of patients, we could not find specific cause of it, but in 16.5% of cases, history of neonatal hypoxia (4.9%), meningitis (3.9%), prematurity (1.9%), small for gestational age (1.0%), CO poisoning (1.0%), encephalopathy (1.0%), DPT vaccination (1.0%), cerebrovascular accident (1.0%) and neonatal jaundice (1.0%) were found, 30 cases of patients had associated diseases such as mental retardation, hyperactivity, delayed motor milestones or their combinations. The major abnormal findings of brain CT performed in 42 cases were cortical atrophy, cerebral infarction, hydrocephalus and brain swelling. This review stressed better designed classification of epilepsy is needed and with promotion of medical care, prevention of epilepsy is possible in some cases. Also it is stressed that childhood epilepsy requires multidisplinary therapy and brain CT is helpful in the evaluation of epilepsy with limitation in therapeutic aspects.

• Clinical and Experimental Pediatrics
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• v.49 no.2
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• pp.187-191
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• 2006

Purpose : Malformation of cortical development(MCD) constitutes an important etiology of intractable epilepsy and is considered an indication for surgical treatments, though their efficacy is limited and variable depending on MCD's location or distribution. Ketogenic diets are widely known to be effective, but as little study has been made concerning their efficacy on epilepsy with MCD, we evaluated the efficacy of ketogenic diets on MCD patients compared with that of epileptic surgery, which is more invasive. Methods : We performed retrospective studies and analyse on 30 patients with MCD diagnosed by brain MRI and treated with ketogenic diets for intractable epilepsy since 1998, checking decreases in their seizure episodes after starting the diets. Results : Cortical dysplasia was observed in 24(80.0 percent) patients as the most common type of MCD. Also, MCD was observed in unilateral hemisphere most commonly, in 23(76.7 percent) patients; it was observed in both hemispheres in 7(23.3 percent) patients. Nine(30.0 percent) out of 30 patients became seizure-free after starting ketogenic diets, and 14(46.7 percent) patients experienced 50 percent seizure reductions as well. Age of starting the diet or the duration of epilepsy period before starting showed no statistical relationship with the efficacy of the diet. Though the younger the patient and the longer the treatment the more effective the diet seemed to be, there was no statistical correlation between them. The location of MCD showed no significance neither. Conclusion : Considering various limits and invasiveness of surgical treatment, a ketogenic diet could be a good tool in treating children with intractable epilepsy with MCD.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.75-80
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• 2009

Purpose : In adults, valproate (VPA) has been reported to be associated with thrombocytopenia. However, few studies have investigated this association in children, and the factors affecting platelet counts remain controversial. This study was undertaken to investigate changes in platelet counts following VPA therapy and related factors in children with epilepsy. Methods : Our subjects comprised 75 epileptic children who had received VPA monotherapy for at least 1 year between January 2000 and December 2005. We regularly examined platelet counts at intervals of 6 to 12 months after baseline platelet counts before VPA treatment. We analyzed changes in platelet counts according to several factors such as sex, seizure type, underlying causes of epilepsy, age at the start of medication as well as at the last follow up, duration of VPA administration, VPA dose, serum VPA level, and body weight at the last follow up. Results : Overall, the platelet counts decreased significantly after VPA therapy. The average baseline platelet count was $312.5{\pm}109.1{\times}10^6/mL$. At the last follow up, the average platelet count was $261.7{\pm}72.2{\times}10^6/mL$. We observed the relationship between platelet counts and serum levels of VPA; while children with serum VPA <$75{\mu}g/mL$ showed no change in platelet counts (P=0.102), children with serum VPA >$75{\mu}g/mL$ showed a significant decrease in platelet counts. Conclusion : VPA may cause a significantly decreased platelet count in children with epilepsy. High serum VPA levels were associated with development of thrombocytopenia.