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

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with healthy comparisons, children with epilepsy showed differences in the social, school, total competence scale, withdrawn, somatic complaints, social problems, thought, attention problems, aggressive behavior, internalizing and externalizing problem, and total behavior problem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 Significant differences in the social, school, total competence scale, withdrawn, social problems, attention, and total behavior problem scales were found between groups in clinical spectrum and nonclinical spectrum.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

Hypercalcemia in infancy is an uncommon disorder but has a potential of serious sequelae. Therefore, infants with hypercalcemia must be promptly investigated and need urgent management. We report three cases of infantile hypercalcemia caused by vitamin D intoxication, emphasizing diagnostic investigations and the course of treatment. The first and the second cases were thought to be vitamin D intoxication without doubt, and were presented with a low parathyoid hormone(PTH) level and increased 25-hydroxyvitamin D3(25(OH)D3). The third case, which was hypotonic and accompanied with chromosomal anomaly, showed relatively low PTH and elevated 25(OH)D3. The first and the third case presented with poor oral intake and a failure to thrive. The second case was asymptomatic and founded incidentally by routine laboratory tests during treatment of the underlying disease. The hypercalcemia of three patients improved after a change of the formula milk with short term medication, lowering serum calcium. Thus we suspect that infants with hypercalcemia have a vitamin D intoxication caused by formula milk. This report describes three cases of hypercalcemia in infancy induced by vitamin D intoxication, a with review of the literature.
Calcium ; Failure to Thrive ; Humans ; Hypercalcemia* ; Infant ; Milk ; Poisoning ; Vitamin D* ; Vitamins*

Ophthalmoplegic migraine (OM) is a poorly understood neurological syndrome characterized by recurrent headaches with paresis of the ocular cranial nerves. The third cranial nerve is most commonly affected; the fourth and sixth nerve less so. The etiology, pathophysiology, and definitive treatment of OM remain unclear. We here report a 12-year-old girl who presented with recurrent OM attacks. This adolescent patient demonstrated contrast-enhanced oculomotor nerves on magnetic resonance imaging during OM episodes and marked responses to steroid treatment. The findings in our present study emphasize the difficulty of OM diagnosis, even with new International Headache Society criteria, because patients rarely fulfill all of the relevant characteristics at the same time.
Adolescent* ; Child ; Cranial Nerves ; Diagnosis ; Female ; Headache ; Humans ; Magnetic Resonance Imaging ; Migraine Disorders ; Oculomotor Nerve ; Ophthalmoplegic Migraine* ; Paresis

PURPOSE: The aim of this study was to evaluate the data of 11 patients who had excessive drooling attributable to various diseases such as hypoxic ischemic encephalopathy, spinal muscular atrophy, and esophageal stricture treated with the injection of botulinum toxin A. METHODS: Eleven children with excessive drooling were enrolled in a retrospective clinical evaluation. Eighty to a hundred units of botulinum toxin A were injected into the patients' parotids, submandibular glands under sonographic guide. Subjective measures including Teacher Drooling Scale(TDS) by the patients' parents or caregivers were used to determine the effect of botulinum toxin A on drooling and to document the severity and frequency of children's drooling. RESULTS: The TDS and number of suctions per day demonstrated a significant reduction at 1 week, 1 month, and 3 months in most of the patients. We defined a 2 point decrease on the TDS as "success to therapy". Five of the eleven patients(45.5%) responded to botulinum toxin A injections. Of children who responded, the definite reduction of drooling was noticed at 4 weeks after the injections in three children, at 12 weeks in one, and at 1 week in the other. No adverse effects were observed during and after the injections in this study. CONCLUSION: Parotid and submandibular botulinum toxin A injection is an effective method for the reduction of excessive drooling, demonstrating a high response rate up to 12 weeks. The procedure is simple to perform, and safe when ultrasonographic guidance is used.
Botulinum Toxins ; Caregivers ; Cerebral Palsy ; Child ; Esophageal Stenosis ; Humans ; Hypoxia-Ischemia, Brain ; Muscular Atrophy, Spinal ; Parents ; Retrospective Studies ; Sialorrhea ; Sorbitol ; Submandibular Gland ; Suction ; Tyramine

Respiratory syncytial virus (RSV) is an extremely common cause of childhood respiratory infection resulting in significant morbidity and mortality especially in young infants and premature babies. There have been a few reports about seizures or encephalopathy in children with RSV infection. We describe here refractory status epilepticus in two preterm babies with severe respiratory illness by RSV infection. The seizures were refractory to phenobarbital and diphenylhydantoin, but ceased by continuous midazolam infusion. After several days with clinical improvement of respiratory illness, their seizures were stable on phenobarbital maintenance only. Although rare, status epilepticus can be a form of neurologic manifestation of severe RSV infection in preterm baby. We must be aware of their neurological manifestations; continuous EEG monitoring is helpful for the diagnosis of the status epilepticus in infants.
Child ; Electroencephalography ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Midazolam ; Neurologic Manifestations ; Phenobarbital ; Phenytoin ; Respiratory Syncytial Viruses ; Seizures ; Status Epilepticus

Neonatal seizures represent a heterogeneous group of disorders with vastly different etiologies and outcomes. Benign familial neonatal convulsions (BFNC) are a distinctive epileptic syndrome of autosomal dominant inheritance with a favorable prognosis, characterized by the occurrence of unprovoked partial or generalized clonic seizures in the neonatal period or early infancy. Recently, mutations in two potassium channel genes, KCNQ2 and KCNQ3, have been described in this disorder. In this report, we describe a family with BFNC due to a KCNQ2 mutation, the first such family to be described in the Korean population. The diagnosis of BFNC can be made based on clinical suspicion and careful history taking with special emphasis on the familial nature of the disorder. KCNQ2 mutations may be associated with BFNC in a number of different races, as has been reported in other ethnic groups.
Electroencephalography ; Epilepsy, Benign Neonatal/*diagnosis/genetics ; Female ; Humans ; Infant, Newborn ; KCNQ2 Potassium Channel/*genetics ; Magnetic Resonance Imaging ; Mutation ; Pedigree ; Republic of Korea ; Sequence Analysis, DNA

Systemic lupus erythematosus (SLE) is an autoimmune disorder involving multiple organs. Neuropsychiatric symptoms are frequently associated in SLE, which is referred to as neuropsychiatric SLE (NPSLE). NPSLE contains both central and peripheral nervous systems, which includes transverse myelitis, and Guillain-Barre syndrome (GBS). We report our experience of concurrent manifestation of transverse myelitis and GBS as an initial presentation of SLE, which suggests the common immune-mediated mechanisms of diseases. We here report the case of a 14-year-old boy with SLE who first presented with features of GBS. The patient developed ascending weakness starting from low extremities, experienced difficulty voiding, and had a facial rash. An initial diagnosis of GBS was made on the basis of clinical findings and nerve conduction studies. But he did not respond to intravenous immunoglobulin therapy and following spine MRI displayed T2 weighted high signal intensities from the cervical to thoracic region of the spinal cord, and serological analysis revealed the presence of anti-dsDNA, anti-smAb, anti nuclear antibody with decreased level of complements. The diagnosis was revised to GBS and acute transverse myelitis resulting from SLE. Additional methylprednisolone pulse therapy led to rapid clinical improvement. This was followed by oral prednisolone and cyclophosphamide pulse therapy. This is the first case of concurrent manifestation of GBS and transverse myelitis as initial presentation of SLE. The cross-reactivity of autoantibodies and increased susceptibility to infection owing to immunologic changes associated with lupus may form the basis of the association. Clinicians should consider a diagnosis of SLE as an etiology of GBS or transverse myelitis.
Adolescent ; Autoantibodies ; Complement System Proteins ; Cyclophosphamide ; Exanthema ; Extremities ; Guillain-Barre Syndrome ; Humans ; Immunization, Passive ; Lupus Erythematosus, Systemic ; Methylprednisolone ; Myelitis, Transverse ; Neural Conduction ; Peripheral Nervous System ; Prednisolone ; Spinal Cord ; Spine

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