• Journal of Genetic Medicine
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• v.18 no.1
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• pp.44-47
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• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

• 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.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.

• 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.49 no.5
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• pp.529-532
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• 2006

Purpose : To study the spectrum of epilepsy in children with cerebral palsy. Methods : A total of 93 consecutive patients with cerebral palsy(CP) were retrospectively suited. Criteria for inclusion were a follow-up period of at least 2 years. The study examined the correlation between the incidence of epilepsy and seizure types in the different forms of CP. Other factors associated with epilepsy, such as age of first seizure, occurrence of abnormalities on brain imaging, and electroencephalogram were also analyzed. Results : The overall prevalence of epilepsy in children with CP was 46.2 percent. The incidence of epilepsy was predominant in patients with mixed, diplegic, and quadriplegic palsies : 55.5 percent, 51.6 percent, and 50.0 percent in frequency. The first seizure occurred during the first year of life in 48.8 percent of patients with epilepsy. Generalized tonic-clonic seizures were the most common seizure type(44.2 percent), predominant in diplegic patients(64.3 percent). On the other hand, infantile spasms and myoclonic seizures were the main cause of seizures among quadriplegic children(60 percent and 40 percent, respectively). The occurrence of epilepsy was more popular in the group with abnormal brain imagings; especially encephalomalacia and cortical atrophy. All children with epilepsy in this study showed abnormal electroencephalogram(EEG) findings: Generalized abnormalities were observed in 55.8 percent of children with epilepsy; more dominantly in quadriplegic children(80.0 percent); and 40 percent of children with diplegia showed focal abnormalities. Conclusion : Cerebral palsy is associated with a higher incidence of seizure disorders, which, in the majority, has its onset in the first year of life; brain imaging and EEG are most effective in spotting epilepsy in children with CP.

• Clinical and Experimental Pediatrics
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• v.52 no.5
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• pp.549-556
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• 2009

Purpose : To assess parental knowledge and understanding of epilepsy including social stigma and evaluate the effects of educational programs on parents in an epilepsy camp. Methods : We conducted an epilepsy camp on August 23-24, 2008, at Gyeongsan. Twenty families with an epileptic child each participated in the camp. We performed a survey before and after the camp to obtain data concerning parental understanding of epilepsy and the effects of the camp-based educational programs on the parents. The data were analyzed with SPSS 14.0 using frequency analysis. Results : The parents were sufficiently knowledgeable about epilepsy before the camp, and their knowledge and understanding of epilepsy improved further after the camp. Both perceived stigma and enacted stigma against epilepsy were found in 30.0% of the parents. The perceived stigma decreased to 15.0% after the camp. Conclusion : This study suggests that social approaches such as epilepsy camps are effective in improving parental knowledge and understanding about epilepsy as well as decreasing their perceived social stigma.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.108-111
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• 2005

Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to-end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but showed normal brain magnetic resonance imaging. Chromosome study from peripheral blood showed 46,XY, r(20)(p13q13.3) karyotype. The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature.

• Childhood Kidney Diseases
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• v.23 no.1
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• pp.48-52
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• 2019

The ketogenic diet (KD) has been used as an effective antiepileptic therapy for intractable childhood epilepsy. However, various adverse effects have been reported with use of the KD. We report a case of a child who developed acute tubular necrosis subsequent to therapy with KD. A 5-year-old girl had myoclonic epilepsy with developmental delay. She was under the treatment with antiepileptic drugs since the age of 3 months and on the KD during the past 18 months. Proteinuria persisted intermittently with the initiation of the KD and subsequently increased in the past 2 months. She was admitted with intermittent mild fever, vomiting, and lethargy for the past 3-4 weeks. At the time of admission, she presented with hypertriglyceridemia, heavy proteinuria, renal Fanconi syndrome, and acute kidney injury. Renal sonography showed a marked increase in the size and parenchymal echogenicity of both kidneys. A renal biopsy revealed acute tubular necrosis accompanied by early interstitial fibrosis. After the withdrawal of the KD and supportive therapy, without changing other anticonvulsants and their dosages, improvement of renal function was observed. Proteinuria had disappeared after 1 month and kidney size returned to normal after 8 months. It is hypothesized that the KD can induce and/or aggravate the renal tubulointerstitial injury in some patients who are under the treatment with anticonvulsants.

• 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 Biological Psychiatry
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• v.26 no.2
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• pp.79-87
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• 2019

Objectives The aim of this study was to investigate the impact of clinical and psychological factors on the quality of life of children and adolescents with epilepsy and their families. Methods Children and adolescents with epilepsy and their families (n = 63, age range = 6-17 years) completed questionnaires on epilepsy-related variables, quality of life, children's depressive symptoms, children's anxiety, children's behavioral problems, children's attention problems, parental stress, and parental anxiety. Stepwise regression analysis was performed to determine the significant predictive variables that affect quality of life. Results In the correlational analysis, children's attention problems (r = 0.363, p = 0.004), parental anxiety (r = 0.377, p = 0.003), parental stress (r = 0.564, p < 0.001), and children's behavioral problems (r = 0.503, p < 0.001) showed a significant correlation with quality of life. Parental stress (β = 0.415, p = 0.001, adjusted R² = 0.345) and children's behavioral problems (β = 0.285, p = 0.02, adjusted R² = 0.345) were significantly related to the quality of life. Conclusions Clinicians should pay attention to parental stress and children's behavioral problems, which affect quality of life in families with pediatric epilepsy.