After the first description of infantile spasms (IS) in 1841, extensive clinical and laboratory investigations have been done to find the pathophysiology and the optimal treatments. The concept of the “infantile spasms” has been evolved to the “epileptic spasms”, which includes the spasms outside the infancy the pathophysiology of IS, however, is still unknown. There have been a few randomized trials that proved the efficacy of the anecdotally used drugs in IS including hormonal therapy and vigabatrin. Due to its relative low incidence (1/2000) and the variable etiologies, clinical studies have difficulties in making a clear conclusion. Thus, animal models were eagerly sought to find the pathophysiology based treatments with definite efficacy and several models are now available. In this paper, the current understandings of the epileptic spasms as well as the translational researches using the animal models of IS are reviewed. The latest evidences of therapeutics in IS are discussed shortly.
Incidence ; Infant ; Infant, Newborn ; Models, Animal ; Spasm* ; Spasms, Infantile ; Translational Medical Research ; Vigabatrin

Hemimegalencephaly and tuberous sclerosis complex are distinct and rare conditions which are characterized by malformations of cortical developments. Hemimegalencephaly is a cerebral malformation of unknown pathophysiology characterized by asymmetry of the hemispheres and cortical dysplasia. Tuberous sclerosis complex(TSC) is an autosomal dominant neurocutaneous disorder characterized by the formation of hamartomatous lesion in multiple organ systems. While they are currently thought to be unrelated, there are similar cases in the literature and it is conceivable that an abnormality in early cortical development could lead to both conditions in an individual. We report here a first Korean case of unusual association of hemimegalencephaly and tuberous sclerosis complex with mutation in the TSC2 gene, who presented initially frequent partial seizures and infantile spasms.
Epilepsy ; Malformations of Cortical Development ; Neurocutaneous Syndromes ; Seizures ; Tuberous Sclerosis

Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Briefly, a 3-year-old girl was admitted to the hospital due to right-sided, complex partial seizures without preceding febrile illness. The seizures evolved into epilepsia partialis continua and were accompanied by epileptiform discharges from the left frontal area. Three weeks after admission, the patient's seizures were reduced with antiepileptic drugs; however, she developed sleep disturbances, cognitive decline, noticeable oro-lingual-facial dyskinesia, and choreoathetoid movements. Anti-NMDAR encephalitis was confirmed by positive detection of NMDAR antibodies in the patient's serum and cerebrospinal fluid, and her condition slowly improved with immunoglobulin, methylprednisolone, and rituximab. At present, the patient is no longer taking multiple antiepileptic or antihypertensive drugs. Moreover, the patient showed gradual improvement of motor and cognitive function. This case serves as an example that a diagnosis of anti-NMDAR encephalitis should be considered when children with uncontrolled seizures develop dyskinesias without evidence of malignant tumor. In these cases, aggressive immunotherapies are needed to improve the outcome of anti-NMDAR encephalitis.
Anti-N-Methyl-D-Aspartate Receptor Encephalitis* ; Antibodies ; Anticonvulsants ; Antihypertensive Agents ; Cerebrospinal Fluid ; Child* ; Child, Preschool ; Cognition ; Consciousness ; D-Aspartic Acid ; Diagnosis ; Dyskinesias ; Encephalitis ; Epilepsia Partialis Continua* ; Female ; Fever ; Humans ; Immunoglobulins ; Immunotherapy ; Korea* ; Methylprednisolone ; Rituximab ; Seizures ; Virus Diseases

The posterior reversible encephalopathy syndrome(PRES) is characterized clinically by a combination of acute or subacute confusion, lethargy, visual disturbance, and seizures. PRES has been described in various clinical settings, including severe hypertension, chemotherapy, eclampsia, and seizure. We report a case of a 7-year-old girl who had taken cyclosporine for steroid resistant nephrotic syndrome. Twenty one days after the cyclosporine therapy, she was admitted due to generalized tonic clonic seizure and headache. Her blood pressure was 170/90 mmHg. Magnetic resonance(MR) imaging showed necrotic/cystic lesions involving the bilateral parieto-occipital region. After discontinuation of cyclosporine, and control of blood pressure, she had no more seizure and headache. The follow-up MR examination which was performed 6 months later showed the decreased extent of the lesion.
Blood Pressure ; Child* ; Cyclosporine* ; Drug Therapy ; Eclampsia ; Female ; Follow-Up Studies ; Headache ; Humans ; Hypertension ; Lethargy ; Nephrotic Syndrome* ; Posterior Leukoencephalopathy Syndrome* ; Pregnancy ; Seizures

Cyclic vomiting syndrome (CVS) is a paroxysmal, recurrent vomiting disorder of unknown pathophysiology and target organ. It has been hypothesized that CVS shares the same mechanism as migraine. We describe here a 5-year-old boy with CVS characterized by episodic vomiting attacks. These recurrent vomiting episodes began at 3 years of age, occurred every month and lasted for 5 days at a time. At the time of admission, no abnormal physical or neurological findings were observed and laboratory findings, including brain MRI and endoscopic examination, revealed nothing specific. The vomiting episodes were self-limited but recurrent and severely interrupted his daily life. When this patient was treated with topiramate, he showed a marked increase of symptom-free periods.
Brain ; Child ; Child, Preschool ; Humans ; Magnetic Resonance Imaging ; Male ; Migraine Disorders ; Vomiting*

OBJECTIVES: The aim of this study was to estimate the prevalences of electroencephalographic (EEG) abnormalities and epilepsy in children and adolescents with autism spectrum disorder (ASD). In addition, we intended to identify demographic and clinical correlates of epilepsy in ASD. METHODS: A total of 140 children and adolescents (age 7.3+/-4.8 yrs, 106 boys) with ASD underwent EEG from January 2010 to December 2013 at Asan Medical Center. Medical records were reviewed for demographic information, clinical characteristics, psychiatric diagnoses and comorbidities, EEG findings and neurological diagnoses. RESULTS: The prevalences of EEG abnormalities and epilepsy in children and adolescents with ASD was 62.1% and 38.6%, respectively. In subjects with seizure-like movements, EEG abnormalities and epilepsy were more frequent than those without seizure-like movements (EEG abnormalities : 92.5% vs. 43.7%, p<.001 ; epilepsy : 90.6% vs. 5.7%, p<.001). ASD subjects who had epilepsy were older (p=.001), had lower full scale intelligence quotient (p<.001) and took more antipsychotics (p=.006) than those who did not. CONCLUSION: The prevalences of EEG abnormalities and epilepsy in our sample were similar to those from Western countries. Our results suggested a possible association of older age, lower intelligence quotient, and antipsychotics use with epilepsy in ASD. Conduct of further prospective study in a larger sample is needed.
Adolescent* ; Antipsychotic Agents ; Autism Spectrum Disorder* ; Child* ; Chungcheongnam-do ; Comorbidity ; Diagnosis ; Electroencephalography ; Epilepsy ; Humans ; Intelligence ; Medical Records ; Prevalence

Neuromyelitis optica(NMO) or Devic's syndrome is an uncommon clinical syndrome associating with unilateral or bilateral optic neuritis and transverse myelitis. It is rarely found in children and usually reported in adults with serious neurologic manifestations. We report a case of an 8-year-old girl with neuromyelitis optica whose first clinical manifestation was acute visual loss of both eyes. Initially the patient had been diagnosed with central retinal artery occlusion and optic neuritis by ophthalmologic examination, a brain magnetic resonance imaging, and cerebrospinal fluid findings. She was treated with intravenous methylprednisolone pulse therapy and heparinization. Then the treatments were replaced with oral prednisolone and warfarin. At the fifteenth day after the start of oral prednisolone tapering, she visited our emergency room for voiding difficulty and paresthesia on both legs. A spinal magnetic resonance imaging revealed increased signal intensity in T2-weighted images from cervical to lumbar level, and neuromyelitis optica- IgG(NMO-IgG) was detected in the patient's serum. After we diagnosed her as having neuromyelitis optica, intravenous methylprednisolone and nine courses of daily plasmapheresis were tried. However, the patient still had visual loss, pain, and sensory loss below the sixth thoracic dermatome, and we tried maintenance therapy with intravenous rituximab. We report our case with reviews of the related literatures.
Adult ; Antibodies, Monoclonal, Murine-Derived ; Brain ; Child ; Emergencies ; Eye ; Heparin ; Humans ; Leg ; Magnetic Resonance Imaging ; Methylprednisolone ; Myelitis, Transverse ; Neurologic Manifestations ; Neuromyelitis Optica ; Optic Neuritis ; Paresthesia ; Plasmapheresis ; Prednisolone ; Retinal Artery ; Retinal Artery Occlusion ; Warfarin ; Rituximab

PURPOSE: This study was aimed to investigate the psychiatric manifestations in children with epilepsy and the associations with seizure-related variables. METHODS: The Korean version of the Child Behavior Checklist (K-CBCL) and the ADHD Rating Scale (K-ARS) were used to assess the psychopathology of 78 children with epilepsy (39 boys, mean age: 9.8+/-3.26 years-old) and 78 healthy comparisons matched for age and sex. RESULTS: Compared with healthy comparisons, children with epilepsy showed differences in the social, school, total competence scale, withdrawn, somatic complaints, social problems, thought, attention problems, aggressive behavior, internalizing and externalizing problem, and total behavior problem scores in the K-CBCL. Significant differences in the social, school, total competence scale, withdrawn, social problems, attention, and total behavior problem scales were found between groups in clinical spectrum and nonclinical spectrum. The inattentive, hyperactive/impulsive, and total scores of the K-ARS between groups were significantly different. In addition, the total scores of the K-ARS between subjects in clinical spectrum and nonclinical spectrum were different. The more the number of antiepileptic drugs, the higher significance of the score for aggressive behavior, sex problem, somatic complaints in the K-CBCL, and the inattentive scales in the K-ARS. In addition, the withdrawn, anxious/depressed and somatic complaints in the K-CBCL were correlated with sex, onset age and seizure type, respectively. CONCLUSIONS: Children with epilepsy may experience more various and serious psychiatric problems than healthy children. Responsiveness to antiepileptic drugs and seizure itself can be risk factors of psychiatric manifestations in epileptic children.
Age of Onset ; Anticonvulsants ; Checklist ; Child Behavior ; Child* ; Epilepsy* ; Humans ; Mental Competency ; Psychopathology ; Risk Factors* ; Seizures* ; Sexual Behavior ; Social Problems ; Weights and Measures

PURPOSE: This study is aimed to evaluate the effectiveness and tolerability of rufinamide as add-on therapy in patients with intractable epilepsies. METHODS: We retrospectively reviewed the medical records of 70 patients treated with rufinamide in Asan Medical Center, children's hospital. Two cases with incomplete medical records were excluded and total sixty-eight cases were enrolled. Rufinamide was added on the existing antiepileptic drugs and the total seizure frequency at pre-medication, 3 months and 12 months were examined. RESULTS: The mean age of 68 patients (43 male) was 10.5 yrs (range, 1-24 yrs). At 3 months after rufinamide initiation, 5 patients achieved freedom from seizures and 28 (41.2%) achieved a ≥50% seizure reduction. At 12 months, 7 patients achieved seizure freedom and 29 (42.6%) achieved ≥50% seizure reduction. The retention rate was hold up to 75.0% at 3 months and 66.2% at 12 months of study. Total 29 patients reported adverse events in order of seizure aggravation, somnolence, insomnia, common cold, nausea and vomiting. CONCLUSION: In this study, rufinamide is effective and tolerable in patients with other intractable epilepsy of childhood onset as well as the patients with LGS. Further research is required to define the efficacy of rufinamide in intractable epilepsy other than LGS.
Anticonvulsants ; Chungcheongnam-do ; Common Cold ; Drug Resistant Epilepsy ; Encephalitis, Viral* ; Freedom ; Humans ; Medical Records ; Nausea ; Retrospective Studies ; Seizures ; Sleep Initiation and Maintenance Disorders ; Vomiting

PURPOSE: The majority of patients with idiopathic generalized epilepsy (IGE) are controlled by an antiepileptic drug when appropriately selected. So far, valproate is regarded as the first-line treatment for IGE. Also, it is postulated that lamotrigine and topiramate may have efficacy in IGE but there are a few evidence to support the usage. We examined the remission rates of seizures on valproate, lamotrigine, topiramate and factors predicting the outcome. METHODS: We reviewed the patients who diagnosed as IGE in pediatric neurology clinics in Asan Medical Center from March, 1995 to August, 2005. The patients with childhood absence epilepsy and patients without generalized spike and slow waves in EEG were excluded. Data were collected retrospectively on demographics, seizure types, antiepileptic drug treatment details, and remission rates. RESULTS: 64 of 80 patients had achieved one year period of remission by monotherapy with following drugs: Valproate (73.7% of 38 patients), lamotrigine (72.4% of 29 patients) or topiramate (83.3% of 18 patients). Among patients who failed to achieve remission by monotherapy, the combination of the drugs showed a remission rate of 72.7% (8/11 patients). Factors such as age, sex, family history, and history of febrile convulsions did not affect the remission rates. The existence of photoparoxysmal responses or focal epileptiform discharges, and syndrome diagnoses also couldn't be the predictive factors as well. CONCLUSIONS: As in adult patients with IGE, topiramate and lamotrigine as well as valproate can be used as the most effective anti-epileptic drugs in children with IGE without significant side effect.
Adult ; Child ; Chungcheongnam-do ; Demography ; Diagnosis ; Electroencephalography ; Epilepsy, Absence ; Epilepsy, Generalized* ; Humans ; Immunoglobulin E ; Neurology ; Retrospective Studies ; Seizures ; Seizures, Febrile ; Valproic Acid*