• Journal of Genetic Medicine
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• v.21 no.1
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• pp.36-40
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• 2024

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is a maternally inherited mitochondrial disorder that usually affects the cerebral cortex and prevents high-energy demands from being met. Herein, we present the case of a male patient who rapidly developed multiple seizures, headaches, and altered mentality accompanied by severe metabolic acidosis and lactic acidosis. Initially, a brain imaging study confirmed stroke-like lesions (SLLs) only in the cerebellum. During follow-up, newly developed SLLs with lactic acidosis were observed in the basal ganglia (BG), cerebellum, and occipital lobe. The m.3243A>G variant had been found in the patient and MELAS was diagnosed, despite the BG and cerebellum being atypical locations for SLLs in MELAS. Since most cases of m.3243A>G variant MELAS show SLLs in the cerebral cortex, this case is unusual considering the location of the lesion. We emphasize that in the case of lactic acidosis accompanied by neurological symptoms, such as seizures, as in this case, MELAS should be included in the differential diagnosis, even if SLLs are observed in areas other than the cerebral cortex.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1225-1231
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• 2005

Purpose : This study compares the first epileptic seizures between preterm and term-born children with periventricular leukomalacia and epilepsy. Methods : From 108 cases having lesions of high signal intensity around the ventricles in T2 weighted imaging of a brain magnetic resonance study, we selected 37 cases that showed epileptic seizures two times or more and divided them into the group of preterm-born(27 cases) and term-born children(10 cases). A retrospective study was made by comparing the two groups with regard to age, type of the first epileptic seizures, EEG findings and responsiveness to anticonvulsants. Results : The age of the first epileptic seizure was $22.2{\pm}18.3$ months in the preterm-born group and $26.9{\pm}21.1$ months in the term-born group(P=0.505). As for the first epileptic seizure, 11 out of the 27 cases in the preterm-born group had infantile spasms. Out of the 10 cases in the term-born group, 7 had complex partial seizures. In the preterm group, hypsarrhythmias were found in 11 cases, focal epileptiform discharges in 6 cases. In term-born group, focal epileptiform discharges were found in 5 cases but no epileptiform discharge was found in 3 cases. Intractable epilepsies were diagnosed in 6 cases and all of them belonged to the preterm-born group. Conclusion : More severe epilepsies such as infantile spasm and intractable epilepsies seem to be more common in preterm-born epileptic children with PVL as well as more severely abnormal EEG finding compared to term-born epileptic children.

• Journal of the Korean Society of Radiology
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• v.81 no.6
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• pp.1412-1423
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• 2020

Purpose Some patients with neonatal seizures show diffuse, symmetric diffusion-restricted lesions in the cerebral white matter. The aim of this study was to describe clinical and imaging findings of patients with neonatal seizures who had diffuse, symmetric diffusion-restricted lesions without any structural or metabolic etiology. Materials and Methods A total of 56 neonates aged less than 1 week underwent brain magnetic resonance imaging (MRI) for evaluation of seizures from November 2008 to February 2017. After excluding 43 patients, 13 patients showed diffuse white matter abnormality on diffusion-weighted imaging. Initial and follow-up clinical and MRI findings were analyzed retrospectively. Results All 13 patients were born at full term. Among the ten patients who underwent a stool test for viruses, six were positive for rotavirus and one for astrovirus. MRI revealed diffuse, symmetric diffusion-restricted lesions distributed along the cerebral white matter, thalami, and midbrain variably. Conclusion Diffuse, symmetric diffusion-restricted lesions involving the cerebral white matter can be seen in patients with neonatal seizures without any structural or metabolic etiology. Rotavirus is commonly but not exclusively detected in these patients. Nevertheless, viral infection-associated encephalopathy should be considered for patients with characteristic clinical and MRI findings.

• 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.

• Journal of Pharmacopuncture
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• v.19 no.2
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• pp.163-166
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• 2016

Objectives: Quercetin is a flavonoid and an important dietary constituent of fruits and vegetables. In recent years, several pharmacological activities of quercetin, such as its neuroprotective activity and, more specifically, its anti-convulsant effects in animal models of epilepsy, have been reported. This study evaluated the role of quercetin pretreatment on gene expression of ${\gamma}$-amino butyric acid type A ($GABA_A$) receptor beta subunits in kainic acid (KA)-induced seizures in mice. Methods: The animals were divided into four groups: one saline group, one group in which seizures were induced by using KA (10 mg/kg) without quercetin pretreatment and two groups pretreated with quercetin (50 and 100 mg/kg) prior to seizures being induced by using KA. Next, the messenger ribonucleic acid (mRNA) levels of the $GABA_A$ receptor ${\beta}$ subunits in the hippocampus of each animal were assessed at 2 hours and 7 days after KA administration. Quantitative real-time polymerase chain reaction (RT-PCR) assay was used to detect mRNA content in hippocampal tissues. Results: Pretreatments with quercetin at doses of 50 and 100 mg/kg prevented significant increases in the mRNA levels of the ${\beta}_1$ and the ${\beta}_3$ subunits of the $GABA_A$ receptor at 2 hours after KA injection. Pretreatment with quercetin (100 mg/kg) significantly inhibited ${\beta}_1$ and ${\beta}_3$ gene expression in the hippocampus at 7 days after KA injection. But, this inhibitory effect of quercetin at 50 mg/kg on the mRNA levels of the ${\beta}_3$ subunit of the $GABA_A$ receptor was not observed at 7 days after KA administration. Conclusion: These results suggest that quercetin (100 mg/kg) modulates the expression of the $GABA_A$ receptor ${\beta}_1$ and ${\beta}_3$ subunits in the KA model of epilepsy, most likely to prevent compensatory responses. This may be related to the narrow therapeutic dose range for the anticonvulsant activities of quercetin.

• Journal of agricultural medicine and community health
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• v.16 no.2
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• pp.165-171
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• 1991

Two patients with confirmed cerebral cysticercosis were treated with Albendazole(Zentel$^{(R)}$) at a daily dose of 1.200mg t.i.d. for 14 consecutive days and evaluated for tolerance and therapeutic effects. First case was 29 year old male, who had experience of 4 times of grand mal seizures during 1 year period before administration in Korea University Hospital. His chief complaints were seizure and moderate degree headache. He also had 4 subcutaneous nodules on the thorax, right and left upper arms. Among them one nodule was biopsied and confirmed microscopically as Cysticercus cellulosae hominis. Computed tomography of the brain showed four round low density lesions in right postero-frontal area, sylvian area, intra-occipital area and left parietal area. Second case was 48 year old male, who also had experience of seizures at 3 years, 5 months and 3 months before administration. In this case, no subcutaneous nodules and no headaches were noted. Brain CT showed four round low density lesions in right postero-parietal area and temporo-parietal area, and left temporo-parietal and parietal area. Serum antibody against cystic fluid antigen was detected by ELISA in both cases. The efficacy of the treatment of cerebral cysticercosis was assessed by the frequency of convulsions after treatment for 22 months follow-up. by the disappearance of the densities in cystic lesions at brain CT for 6 months follow-up, and disappearance of subcutaneous nodules, headache and so on. As the results, all low density lesions in both cases were disappeared in films of brain CT, and 4 nodules in first case were also disappeared. No more seizure and complain of headache occurred during the last 22 months after treatment in both cases. Post-treatment complete blood count and liver function test revealed no remarkable change compared to pre-treatment test. In the nations of Latin America, the physicians do not initially recommended the simultaneous administrations of steroids, reserving them only for patients whom the adverse reactions such as severe headache and/or seizures are occurred. According to them, in most patients these symptoms are controlled with aspirin and symptomatic drugs. But our experience using praziquantel is different, and most cerebral cysticercosis patients who takes PZQ had complaint of severe headache and sometimes seizure. So we simultaneously used dexamethasone as 6mg q.i.d. for 14 consecutive days and 6 days tapering thereafter in both cases for prevention of reactions produced by the host in response to the deaths of the parasites. As the conclusion, albendazole is effective in patients who presented cerebral cysticercosis and albendazole may help in the control of cysticercosis.

• Annals of Clinical Neurophysiology
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• v.4 no.1
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• pp.16-20
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• 2002

Background and Objective : Epileptic seizures are frequent complication of lobar hemorrhage. We investigated the factors affecting development of epilepsy following spontaneous lobar ICH. Methods : From January 1986 to July 1999, 114 patients were admitted to Chungnam National University Hospital with spontaneous lobar ICH. We analyzed 75 patients. Excluded were no follow-up(8 patients) and patients died within few days(31 patients). All the patient was followed up at least two years aside from two patients who underwent epileptic seizure and died five and eight months later each. Medical history was obtained through medical record and by telephone interview. Statistical analyses were performed using Chi-square test, Student's t - test, Fisher's exact test. Results : Seizure occurred in 19 patients. As three patients had previous history of seizures, 16 patients(22.2%) showed first onset early- and late-seizures. Early seizure occurred in 14 patients(19.4%). Three out of 14 were heavy alcoholics. Five patients developed late recurrent seizure 61 days to 800 days after the early seizure. Late seizure with no acute seizure occurred in two patients. The types of seizure were diverse as generalized tonic clonic seizure(10), partial seizure with secondary generalization(5), and complex partial seizure(1). The common risk factors for lobar ICH were hypertension(HT), arteriovenous malformation(AVM), and excessive use of alcohol. We could not find any causes in 23 patients. Although size of hematoma, age of onset, sex, incidence of HT or AVM were not different between patients with seizure and without seizure, the history of excessive alcohol drinking was more frequent in patients with seizure. Five patients with late recurrent seizure had ICH involving temporal area. Conclusions : This study suggests that the risk of seizure in patients with lobar ICH was increase in chronic alcoholics and patient with late recurrent seizure had ICH frequently involving temporal area.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.233-239
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• 2018

Purpose: Viral gastroenteritis is a common disease in infants and children. Seizures can be associated with viral gastroenteritis as benign convulsions with mild gastroenteritis (CwG). After the development of the rotavirus vaccination, norovirus has become inreasingly significant in children. We retrospectively analyzed the clinical features in a pediatric population presenting with seizures and confirmed enteral viral infections, especially norovirus infections. Methods: We retrospectively reviewed the medical records of pediatric patients aged <15 years admitted due to convulsions and gastroenteritis to the Department of Pediatrics of Myongji Hospital between July 2014 and June 2016. Results: A total of 46 patients (24 male and 22 female) were included. Norovirus was detected in 21 (45.7%) patients, adenovirus in three (6.5%), rotavirus in two (4.3%), astrovirus in one (2.2%), and none of agents were detected in 19 (41.3%) patients. Patients in the norovirus gastroenteritis (NGE) group had a higher incidence of diarrhea than that among in the non-norovirus gastroenteritis (NNGE) group (61.9% vs 28.0%; P<0.05). Twelve patients experienced status epilepticus, including five (23.8%) in the NGE group and seven (33.0%) in the NNGE group (P=0.837). Seizures were effectively terminated by intravenous benzodiazepines in 8 (66.7%) of 12 patients. Additional long-acting antiepileptic drugs such as fosphenytoin or levetiracetam were required in three (25%) of 12 patients. Conclusion: Patients with CwG with and without noroviurs infection did not differ in terms of clinical features. However, status epilepticus was not uncommon among patients with CwG by definition.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.276-279
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• 2018

Klinefelter syndrome a genetic disorder with various clinical manifestations. Neurological symptoms, such as seizures, are rarely reported with Klinefelter syndrome, and it response well to anti-epileptic drugs. A 5-month-old boy visited the Inha university hospital due to jerking movements and hiccups. The patient had been diagnosed with Klinefelter syndrome at birth and had a medical history of admission to the neonatal intensive care unit due to opisthotonus and ocular deviation at 26 days of age. The patient's serum testosterone level was decreased and his anti-$M{\ddot{u}}llerian$ hormone level was increased. The brain image examination was normal and the electoencephalography and other blood test results showed no specific findings. However, after admission, the patient recurred generalized tonic-clonic-seizures recurred intermittently even after the administration of antiepileptic drugs. This paper reports a case of non-febrile seizures in a child with Klinefelter syndrome who presented with a refractory course.

• 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.