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High Dose Intravenous Valproic Acid for the Management of Prolonged Refractory Status Epilepticus : A Case Report of Satisfactory Neurologic Recovery.

Jee Yeon RIM ; Young Il RHO

Journal of the Korean Child Neurology Society.2009;17(1):102-106.

Refractory status epilepticus (RSE) is defined as seizure activity that continues after treatment with conventional anticonvulsants. Mortality rates of range from 2% to 100%. RSE are associated with significant morbidity and high mortality as evidenced by older age of the patient, acute etiology for the seizure, no previous history of seizures, low initial Glasgow Coma Scale, and the significant duration of the RSE. An intravenous valproic acid (VPA) was suggested as a useful drug in controlling RSE. A continuous infusion VPA was an efficient method of rapidly achieving VPA concentrations in the upper region of the therapeutic range while minimizing adverse effects. A 10-year-old female suffered a generalized tonic clonic seizure that developed into refractory status epilepticus. Her Glasgow Coma Scale was deteriorated to 4. Status epilepticus was refractory to phenytoin, phenobarbital, midazolam, thiopental. After 4days of unsatisfactory control of seizure activity, high dose VPA was administered for 2 months. The clinical and electrolgraphic seizure improved and the patient has made an satisfactory neurologic recovery
Anticonvulsants ; Child ; Female ; Glasgow Coma Scale ; Humans ; Midazolam ; Phenobarbital ; Phenytoin ; Seizures ; Status Epilepticus ; Thiopental ; Valproic Acid

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Two Cases of Benign Non - Familial Neonatal Convulsion.

Yun Jung HUR ; Ji Hyun JEON

Journal of the Korean Child Neurology Society.2009;17(1):97-101.

Benign idiopathic neonatal convulsion is a rare disorder which has no family history of convulsion and develops before and after the 5th day in a healthy full-term neonate. Its characteristics appear focal, or multifocal clonic seizures but rare tonic seizures lasting about several minutes. It reveals non-specific findings in neurologic examination, neuroimaging and EEG(electroencephalography) so that it should be differentiated from those diseases such as eletronic imbalance, inborn errors of metabolism, other neonatal epileptic syndromes. We report two healthy full-term female neonates presented with multifocal clonic seizures before and after the 5th day after birth. They had no family history of convulsion, fetal asphyxia, fetal and maternal problems and the neurologic examination and neuroimagings were normal. The convulsions were controlled by intravenous phenobarbital injection. They had no more convulsions ever since and showed normal development at the follow-up performed one year later. We experienced a rare disorder, benign neonatal convulsion in healthy full-term neonates. We hope this report will help its diagnosis and treatment and prevent unnecessary long- term anticonvulsant medication.
Asphyxia ; Epilepsy, Benign Neonatal ; Female ; Follow-Up Studies ; Humans ; Infant, Newborn ; Metabolism, Inborn Errors ; Neuroimaging ; Neurologic Examination ; Parturition ; Phenobarbital ; Seizures

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A Case of Infantile Spasms in Tuberous Sclerosis with Fetal Cardiac Tumors.

Jang Yong JIN ; Woo Ryoung LEE ; Eun Sook SUH

Journal of the Korean Child Neurology Society.2009;17(1):90-96.

Tuberous sclerosis(TS), a type of neurocutaneous syndrome, is inherited in an autosomal dominant manner. Approximately 60% of children with TS have rhabdomyomas of the heart, and 40% of fetuses in whom rhabdomyomas are detected by a prenatal ultrasonography eventually end up with TS. Therefore, when multiple cardiac rhabdomyomas are detected by a fetal ultrasonography, TS should be suspected and further examination should be considered after birth. Infantile spasms is a common type of seizure among young children with TS. We describe a patient with TS who showed cardiac tumors on a fetal ultrasound. Also, hypomelanotic macules, retinal tumors, brain cortical tubers, nodules in subependymal regions, and infantile spasms was detected after birth.
Brain ; Child ; Fetus ; Heart ; Heart Neoplasms ; Humans ; Infant ; Infant, Newborn ; Neurocutaneous Syndromes ; Parturition ; Retinal Neoplasms ; Rhabdomyoma ; Seizures ; Spasms, Infantile ; Tuberous Sclerosis ; Ultrasonography, Prenatal

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A Case of Diffuse Cerebral Cortical Dysplasia and Partial Agenesis of Corpus Callosum in Seckel Syndrome.

Myong A KIM ; Seul LEE ; Hee Jung CHUNG

Journal of the Korean Child Neurology Society.2009;17(1):84-89.

Seckel syndrome is a rare autosomal recessive disorder characterized by low birth weight, short but proportionate stature, microcephaly, moderate to severe mental retardation and typical facial features mimicking bird including receding forehead and chin, a prominent beaked nose and large eyes. A number of CNS anomalies have been reported in literature that are mental retardation, seizures, pachygyria, arachnoid cysts, large basal ganglia, agenesis of corpus callosum, hypoplasia of cerebellar vermis and cerebral aneurysms. Our patient had seizures, microcephaly, mental retardation and CNS anomalies, including diffuse cerebral dysgenesis, pachygyria and partial agenesis of corpus callosum. We report a case of Seckel syndrome with CNS anomalies and a follow up visit at 5 years later
Agenesis of Corpus Callosum ; Animals ; Arachnoid Cysts ; Basal Ganglia ; Beak ; Birds ; Chin ; Eye ; Follow-Up Studies ; Forehead ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Intellectual Disability ; Intracranial Aneurysm ; Lissencephaly ; Malformations of Cortical Development ; Microcephaly ; Nose ; Seizures

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A Case Report of Genetically Confirmed Glycogen Storage Disease type Ia.

Ka Young YU ; Sung Hoon NOH ; Pyung Han HWANG ; Sun Jun KIM

Journal of the Korean Child Neurology Society.2009;17(1):78-83.

Glycogen storage disease(GSD) type Ia is an autosomal recessive disease, caused by the absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestinal mucosa. Glucose-6-phosphatase is an essential enzyme necessary for gluconeogenesis and glycogenolysis. GSD type Ia is characterized by hypoglycemia, lactic acidosis, hepatomegaly, seizures, doll-like faces with fat cheeks, thin extremities, short stature, protuberant abdomen, easy bruising and epistaxis, delayed puberty, early gout, pancreatitis, kidney stone, and other metabolic derangements such as hyperlipidemia. The most important complications of GSD-Ia are focal segmental glomerulosclerosis and hepatic adenomas. Various mutations have been reported. The most common mutation sites are g727t, G122D, and T255I and also P178A and Y128X muations have been reported. We experienced a female patient showing typical clinical characteristics, laboratory findings such as hypoglycemia, hyperuricemia, and hyperlipidemia, and g727t mutation confirmed by DNA analysis. We present this case with a brief review of related articles
Abdomen ; Acidosis, Lactic ; Adenoma ; Cheek ; DNA ; Epistaxis ; Extremities ; Female ; Glomerulosclerosis, Focal Segmental ; Gluconeogenesis ; Glucose-6-Phosphatase ; Glycogen ; Glycogen Storage Disease ; Glycogen Storage Disease Type I ; Glycogenolysis ; Gout ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Intestinal Mucosa ; Kidney ; Kidney Calculi ; Liver ; Pancreatitis ; Puberty, Delayed ; Seizures

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The Efficacy of ADHD Rating Scale and Continuous Performance Tests in Diagnosis and Treatment of Attention Deficit Hyperactivity Disorder.

Jeong Min YOON ; Joon Woo PARK ; Kon Hee LEE ; Sung Koo KIM

Journal of the Korean Child Neurology Society.2009;17(1):70-77.

PURPOSE:Attention deficit hyperactivity disorder(ADHD) is a neurodevelopmental disorder characterized by symptoms of inattention, impulsivity and/or hyperactivity with an onset during childhood. There are no specific diagnostic and evaluated tools. The aim of this study was to determine clinical availability of adjunctive tests for diagnosis and measure of the efficacy of treatment in ADHD patients. METHODS:The study group consisted of 41 patients under 15 years of age who visited Kangnam Sacred Heart Hospital and Kangdong Sacred Heart Hospital between January 2007 and June 2008 for evaluation of ADHD. Diagnosis was made according to the diagnostic and statistical manual for mental disorder-IV(DSM-IV) with history, physical examination, ADHD rating scale, and attention deficit hyperactivity disorder diagnostic system(ADS). After psychostimulant treatment, patients were reevaluated by previous diagnostic tools and their results were analysed by SPSS version 16.0. RESULTS:The mean age was 8.44+/-2.49 years old, male to female ratio 4.13:1(33:8). Forty one ADHD patients were subdivided into predominantly inattentive type 17(41.5%), predominantly hyperactive-impulsive type 3(7.3%) and combined type 21(51.2%). In patients, concordance rates of adjunctive tests with DSM-IV diagnostic criteria were 74.29% in Korean ADHD Rating scale(K-ARS), 59.09% in abbreviated Conners' rating scale(ACRS) and 92.68 % in ADS with DSM-IV diagnostic criteria. There were significant differences in the ADS results between before and after psychostimulant treatment. CONCLUSION:Because the concordance rates and efficacy of ADS were higher than K- ARS and ACRS in ADHD patients, it suggests that ADS is a useful method to ADHD diagnosis and treatment.
Attention Deficit Disorder with Hyperactivity ; Diagnostic and Statistical Manual of Mental Disorders ; Female ; Heart ; Humans ; Male ; Physical Examination

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Epilepsy, EEG Abnormalities in Children with Autism Spectrum Disorders.

Myong A KIM ; Seung Woo KIM ; Young Key KIM ; Hee Jung CHUNG

Journal of the Korean Child Neurology Society.2009;17(1):58-69.

PURPOSE:The comorbidity of epilepsy varies from 8% to 42% in autism spectrum disorders(ASD), and currently its estimate is approximately one-third of the whole spectrum. Additionally, it is reported that certain ASD patients have EEG abnormalities without epileptic history. This study was conducted to analyze the prevalence of epilepsy and EEG abnormalities in ASD patients, as well as discover the risk factors for such conditions. METHODS:329 cases with ASD were identified from the 1252 patients who visited the Developmental Disorder Clinic at Ilsan Hospital, National Health Insurance Corporation, from April 2001 to June 2008. Among the total ASD cases, the 186 patients who have had EEG test were selected, from which 54 patients with abnormal EEG were classified as a test group and 132 patients with normal EEG as a control group. The results were analyzed and compared between the test and control groups retrospectively. RESULTS:1) A total 186 patients of 143 males and 43 females participated in the study. Subjects were subdivided into 5 groups as follows: 14 Asperger syndrome, 70 pervasive developmental disorder, NOS, 95 autistic disorder, 7 Rett's syndrome, and no childhood disintegrative disorder. The test group was a total of 54 cases with 36 males and 18 females and average age of 56.44+/-27.51. The control group was a total of 132 cases with 107 males and 25 and its average age was 48.86+/-27.44. 2) EEG abnormalities were seen in 54 out of 186 patients(29%) and epileptic symptoms were found in 26 out of 186 patients(14%). 3) Among 186 cases of ASD patients, a total of 217 EEG were conducted and 71(32.7%) of them showed EEG abnormalities. Furthermore, it was noticed that the prevalence of abnormal EEG findings increased with the severity of the disease(P<0.05). 4) Epilepsy is directly related to the severity of ASD(P<0.05) and even higher prevalence was seen in patients with positive family history of epilepsy(P<0.05). 5) On the other hand, abnormal EEG was seen in 31 out of 160 non-epileptic patients. 6) 179 out of 186 ASD patients had taken cognitive function tests and those 156 patients with cognitive impairment were more likely to show abnormalities in EEG. Severe ASD patients were more likely show abnormal EEG and the degree of cognitive impairment was closely related to the severity of ASD(P<0.05). CONCLUSION:Our study showed that risk factors for epilepsy comorbidity and EEG abnormalities in ASD were directly related to family history of epilepsy,the severity of ASD, the presence of cognitive impairment, and the severity of cognitive impairment. It is thought that epilepsy and EEG abnormalities are thought to be markers for underlying brain pathology that resulted in ASD. Furthermore ASD patients showed higher prevalence of EEG abnormalities than the general population, from which it can be speculated that the cause of ASD lies more closely in underlying neurobiological dysfunctions in individual patients, rather than inadequate nurturing environment.
Asperger Syndrome ; Autistic Disorder ; Brain Diseases ; Child ; Child Development Disorders, Pervasive ; Comorbidity ; Electroencephalography ; Epilepsy ; Female ; Hand ; Humans ; Male ; National Health Programs ; Prevalence ; Rett Syndrome ; Risk Factors

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Speech Delay of Children with Mental Retardation.

Gee Na KIM ; Keon Su LEE ; Jae Young KIM

Journal of the Korean Child Neurology Society.2009;17(1):50-57.

PURPOSE:The purposes of this paper are to analyse the degree of language delay according to the classification and the etiology of mental retardation and to assess the efficacy of language treatment in children who received language treatment. METHODS:The number of the subjects for the research is 79. The subjects had been diagnosed as children of mental retardation after a language development test from the language treatment center of the Chungnam National University Hospital from January, 2003 to December, 2007. We gathered the data concerning their main complaints, their etiology of mental retardation, their results of a language development test and an intelligence test, and their results of language treatment. RESULTS:The results of our analysis to the data are as follows: The distribution of mental retardation classified as mild, moderate, and severe is 51.9% of the subjects, 27.9% and 20.2% each. The etiology of mental retardation is distributed as postnatal(20.3%), prenatal(13.9%), prenatal(5.1%), and idiopathic(60.7%). According to the classification of mental retardation, receptive, expressive, and synthetic language show a significant difference. There is no significant difference in the etiology of mental retardation in statistics. Among 28 children taken a language test after language treatment, 14 mild mental retarded children made their language delay to be shortened by 19.9 months, 10 moderate mental retarded children made their language delay to be shortened by 7.2 months, and 4 severe mental retarded children reduced their language delay by 1.3 month. CONCLUSION:The more severe mental retardation is, the longer language delay occurred. But there is no significant difference to language delay according to the etiology of mental retardation. After language treatment, mild mental retarded children show the remarkable shortening of language delay, while moderate and severe mental retarded children are slightly shortening. Therefore, it is thought that more active language treatment is needed to mild mental retarded children.
Child ; Humans ; Intellectual Disability ; Intelligence Tests ; Language Development ; Language Development Disorders ; Language Tests

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The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy.

Chang Deok SEO ; Yoon Jung LEE ; Eun Hye LEE ; Min Hee JEONG ; Mi Sun YUM ; Jung Min KO ; Han Wook YOO ; Tae Sung KO

Journal of the Korean Child Neurology Society.2009;17(1):40-49.

PURPOSE: This retrospective study was designed to know the relation between clinical features, genetics, and immunostaining findings among children with Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and the validity of the diagnostic tools for muscular dystrophy. METHODS: The medical records and computerized databases of 93 patients diagnosed with DMD/BMD from June 1989 to December 2008 were reviewed retrospectively. Demographic characteristics including clinical features, serum creatinine kinase(CK) level, electromyogram(EMG) and nerve conduction velocity(NCV), muscle biopsy, immunochemical staining for dystrophin, and the deletion of dystrophin gene were analyzed. We calculate the concordance rate between type of frame (in or out of frame) and phenotype. RESULTS: 58(62%) children were diagnosed with DMD, 13(14%) BMD, 19(20%) unclassified dystrophy, and 3(3%) DMD/BMD carriers. The mean age of symptom onset was 5.0+/-3.5 years(range, 1-17). 46(49%) children presented gait disturbance and 35(37%) elevation of liver enzymes. The mean value of serum CK enzyme was 14,758+/-11,792 IU/L (range, 633-61,349). There was no dystrophin in the immunochemical stain among 48 DMD children and at least partial or incomplete dystrophin among 10 BMD children. 28/54(51%) children had dystrophin gene deletion in multiplex PCR and 13/14(92%) in Multiplex Ligation-dependent Probe Amplification(MLPA). The loss of heterozygosity was shown in 2 children by MLPA. The overall concordance rate between type of frame(in or out of frame) and phenotype was 95% in this study. CONCLUSION: Despite of small population, this finding indicates that the determination of type of frame (in or out of frame) by MLPA may be helpful in differential diagnosis of DMD/BMD. In addition, we surmise that the detection of carrier by MLPA is helpful in genetic counseling.
Biopsy ; Child ; Creatinine ; Diagnosis, Differential ; Dystrophin ; Gait ; Gene Deletion ; Humans ; Liver ; Loss of Heterozygosity ; Medical Records ; Multiplex Polymerase Chain Reaction ; Muscles ; Muscular Dystrophies ; Muscular Dystrophy, Duchenne ; Neural Conduction ; Phenotype ; Retrospective Studies

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The Effect of Valproic Acid on Serum Total Cholesterol Level in Children with Epilepsy.

Young Mi KIM ; Mun Ju KIM ; Sang Ook NAM

Journal of the Korean Child Neurology Society.2009;17(1):33-39.

PURPOSE: Weight gain is a known side effect of valproic acid(VPA), which is associated with change of serum total cholesterol(TC) level. However, there are controversies on the correlation between VPA and serum TC. This investigation was undertaken to evaluate the change of TC level in children with epilepsy on long-term VPA monotherapy and the related factors. METHODS: Epileptic patients on VPA monotherapy for more than one year were recruited at the Department of Pediatrics, Pusan National University Hospital. The body mass index (BMI) and TC before and after VPA treatment were obtained from all patients. We analyzed the change of serum TC according to dosage of VPA, serum drug level and other clinical data such as gender, age at start of treatment, type of seizure, etiology of seizure, duration of VPA medication and BMI. which could affect the serum TC. RESULTS: 82 children(49 male and 33 female) were included in this study. Mean serum TC of pre- and post-VPA medication was 153.5+/-31.0 mg/dL and 158.1+/-30.2 mg/dL(P>0.05), respectively. There were no clinically significant changes of serum TC level according to dosage of VPA, serum drug level and other clinical data such as gender, age at start of treatment, seizure type, etiology of seizure, duration of VPA medication and BMI(P>0.05). CONCLUSION: Our results suggest that long-term VPA medication does not affect serum TC, and overweight at pre-VPA medication is not a risk factor.
Body Mass Index ; Child ; Cholesterol ; Epilepsy ; Humans ; Male ; Overweight ; Pediatrics ; Seizures ; Valproic Acid ; Weight Gain

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