A Case of an Imported Dengue Hemorrhagic Fever with Spontaneous Bleeding: Case Report and Review of the Literature / 소아감염

Dengue is an acute febrile viral disease which is found in tropical and sub-tropical regions around the world. Dengue fever has steadily increased in both incidence and distribution over the past 50 years. Even though Korea is not an endemic country for dengue fever, with the increasing numbers of overseas travelers in Korea, the numbers of imported dengue cases are steadily increasing. Here, we report a case of imported dengue hemorrhagic fever in a Korean child presenting with fever and epistaxis. Dengue fever should be considered if a patient who has a recent travel history to endemic areas showed classical symptoms.

Current Status of ADHD Treatment in Children with Epilepsy: A Retrospective, Multicenter, Cross Sectional Analysis in Korea / 대한소아신경학회지

PURPOSE: The purpose of this study was to assess the current therapeutic status of attention deficit-hyperactivity disorder (ADHD) in children with epilepsy. METHODS: A cross-sectional survey of 178 patients aged 4-20 years from ten pediatric neurology clinics in eight cities in South Korea from January 2005 to July 2010 was used to assess clinical characteristics of ADHD patients with epilepsy and risk factors associated with ADHD. RESULTS: A total of 178 pediatric epileptic patients were recruited for this study. One hundred seventy-four subjects' (M:F=4:1, mean age: 12.2+/-3.3 yrs old) records were evaluated excluding four patients due to incomplete data. One hundred twenty-five of 174 patients (71.8%) had partial epilepsy and 45 had generalized epilepsy. Eighty of 112 patients showed ADHD combined type from the DSM IV. The mean prevalence rate of ADHD treatment among the epileptic patients was 1.9%. Over 45% of patients showed complete or persistent symptoms without difficulties in school life with CNS stimulants. Adverse reactions were reported in 19.8% of patients who received ADHD medication, and 18 patients discontinued ADHD medication due to severe adverse effects such as aggravated seizures (5.6%) or ADHD symptoms (3.7%). About 60% of children with ADHD and epilepsy had psychiatric comorbid disorders. CONCLUSION: The results indicate that ADHD treatment in epilepsy patients is safe and effective. However, these data also show that ADHD in pediatric epilepsy patients in Korea is under-diagnosed and under-treated.

Predictive Factors for Valproate Treatment in Childhood Absence Epilepsy / 대한소아신경학회지

PURPOSE: To determine the clinical and demographic factors associated with long-term remission of valproate(VPA) therapy in childhood absence epilepsy. METHODS: Fifty-six cases of childhood and juvenile absence epilepsy were identified by reviewing of Electroencephalographic records and medical charts. Thirty-six cases were initially treated with VPA. Factor associated with responsiveness were identified by uni- and mutivariate logistic regression. RESULTS: Twenty-seven patient achieved long-term remission(75%). Failure to achieve remission was more likely if the initial treatment of VPA had failed than if it was successful(53% versus 90.4%, P<0.02) was also associated with failure of long-term remission. Lamotrigine was more efficacious add-on drug than Ethosuximide(63.6% vs 25% P=0.04). CONCLUSION: Long-term seizure remission was related to the patient's initial response to VPA.

Clinical Factors Related With Response to Anti-epileptics in Temporal Lobe Epilepsy With Hippocampal Sclerosis

BACKGROUNDS: Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is not always intractable to antiepileptic drugs (AEDs). To identify the responsiveness to AEDs and related clinical factors in TLE-HS, we performed this study. METHODS: Consecutive 100 (51 men, mean age=30.2+/-6.6, age range=19-50) patients with TLE-HS were divided into two groups by their responsiveness to AEDs. Intractable TLE-HS was defined if they had any seizures for the preceding year with at least two AEDs. Clinical factors were analyzed to find the association of the responsiveness to AEDs. RESULTS: Intractable TLE-HS was found in 68% of patients. The younger age of onset (12+/-4 vs. 31+/-8 years, p<0.0001), longer duration of epilepsy (17+/-6 vs. 2+/-1 years, p<0.0001), more than five tonic-clonic seizures (GTCs) with secondary generalization (29.4 vs. 6.3%, p=0.0009) and bilateral epileptiform abnormalities on EEG (30.9 vs 6.3%, p=0.0054) were significantly correlated with the intractable TLE-HS. According to multiple logistic regression analysis, bilateral epileptiform abnormalities on EEG (adjusted OR=9.4, 95% CI: 1.98~44.76) and more than five GTC (adjusted OR=7.7, 95% CI: 1.60~33.39) were independently related with poor responsiveness to AEDs in TLE-HS. CONCLUSIONS: The presence of hippocampal sclerosis does not necessarily mean intractability to AEDs. The clinical variables related with the poor response to ADEs in TLE-HS are more than five GTCs and bilateral epileptiform abnormalities on EEG.

Moyamoya Disease in Children and Adolescents / 대한소아신경학회지

PURPOSE: Moyamoya disease is a chronic cerebrovascular illness characterized by bilateral stenoses or occlusions of the arteries around the circle of Willis with prominent collateral circulation. We studied 36 children and adolescents with Moyamoya disease to evaluate the clinical features and outcomes. METHODS: Records were reviewed of 36 pediatric patients admitted at the Busan Paik Hospital for Moyamoya disease between January 2000 and July 2007. The clinical records were reviewed in terms of the patient profiles, imaging findings, surgical techniques, and pathologic findings. RESULTS: Overall clinical features, responses to treatment and outcome were nearly same as those of other previous reports in Korea as well as the other countries. The mean age of onset was 8 years and 5 months and the ratio of male to female was 1:1.2. Ischemia was more often than infarction(5.6: 1). Half of the patients had conservative therapy and 17 cases(47%) were treated with EDAS. CONCLUSION: The clinical features of childhood Moyamoya disease are similar to the result from other studies in Korea.

Prolonged Survival of an Adult with Hydranencephaly / 대한소아신경학회지

Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. The prognosis for children with hydranencephaly is generally poor, so many children with this disorder die before the age of 1 year. We experienced a patient with hydranencephaly who showed prolonged survival until age of 22 years. To our limited knowledge, this case may be the longest survival of a patient with hydranencephaly in the world.

Analysis of cytosine adenine(CA) repeat polymorphism of the IGF-I gene and influence on serum IGF-I levels in healthy children and adolescents / 소아과

PURPOSE: The aim of the present study was to investigate the role of polymorphic cytosine adenine (CA) repeat of the IGF-I gene in the age-related alterations of serum IGF-I levels in healthy children. METHODS: Two hundred and forty three normal healthy children (136 boys; 107 girls) aged between 7 and 15 years were enrolled in the present study. The primers were designed to cover the promoter regions containing the polymorphic CA repeat. Data were analyzed using GeneMapper software, version 3.7. All analyses were performed using MEDCALC software packages. RESULTS: Deletion of 2 bp (G, A) following 3' of CA repeat were observed in all Korean children. The CA repeat sequences ranged from 17 to 23, and 19 CA repeat were the most common with an alleles frequency of 39.3 percent. Considering genotypes, 63.8 percent of subjects were homozygote or heterozygote for 19 CA repeat (192 bp allele), suggesting that this is wild type allele from which all other alleles originated in Korean children. Homozygote for 19 CA repeat were 14.7 percent, heterozygote for 19 CA repeat was 49.1 percent and 19 CA noncarriers totalled 36.2 percent. In 19 CA repeat noncarriers, the mean height, weight and serum IGF-I level were lower compared with those of 19 CA homozygous carriers, but statistically not significant. Correlations between serum IGF-I level and age according to the IGF-I genotypes revealed statistically significant relationships in the all groups, in the 19 CA repeat carrier group and, even in the noncarrier group. CONCLUSIONS:There were no significant differences of the mean height, weight and serum IGF-I levels among three different genotype groups. Also, there were no significantly different correlations between 19 CA repeat polymorphisms and serum IGF-I levels, according to genotype. Our results suggest that the IGF-I 19 CA repeat gene polymorphism is not associated with circulating IGF-I levels in healthy children.

The Comparison of Clinical and Electrophysiological Characteristics of Epilepsy with Typical Rolandic Spikes and Concomitantly Additional Frontal or Occipital Spikes with Rolandic Spikes / 대한간질학회지

PURPOSE: Recently have there been a few reports that raised the question that Benign Rolandic Epilepsy (BRE) could be a spectrum. This study was conducted to identify whether or not the clinical and electrophysiological characteristics of typical Rolandic Spikes (RS) are different from those of concomitantly additional frontal or occipital spikes with RS. METHODS: The consecutive 39 patients who showed centro-temporal spikes were divided into typical RS and RS+ groups. We defined RS+ groups as having concomitantly additional frontal or occipital spikes with RS. The independent variables included clinical data 0(age of onset, a significant antecedent event as part of their etiology of epilepsy, nocturnal seizure, abnormal development, abnormal neurologic examination, pattern of seizure, response to medication for at least 1 year and epilepsy syndrome) and electrophysiological data (dipoles, spikes accentuated during sleep). RESULTS: Eighty two percents (32/39) of patients were RS, whereas 18% (7/39) were RS+. The median age of onset was 7 years old and only 10% showed significant antecedent events. Eighty six percents (34/39) of patients had BRE as epilepsy syndrome. Neither clinical factors nor electrophysiological characteristics were different between both groups. CONCLUSION: Although RS+ showed additional spikes more than centro-temporal area, the clinical and electrophysiological characteristics of RS+ were not different from those of RS. Centro-temporal with or without additional spikes could be a homogeneous condition rather than a spectrum.

Neuron-Specific Enolase Levels of Serum and Cerebrospinal Fluid in Children with Febrile Seizure / 대한소아신경학회지

PURPOSE: Neuron-specific enolase(NSE) has been established as a reliable marker of neuronal damage in various neurologic disorders. The aim of this study was to evaluate whether febrile seizure cause brain damage, based on the serum and cerebrospinal fluid (CSF) levels of NSE. METHODS: Twenty-one pateints were enrolled. The maximal seizure duration was 90 mins. Blood and CSF samples for the measurement of NSE were obtained immediately after the seizure. NSE was measured using an immunoradiometric assay(IRMA). RESULTS: The CSF NSE level of the febrile seizure group was 11.7+/-2.04 ng/mL and that of the control group was 11.3+/-5.7 ng/mL. The serum NSE level of the febrile seizure group was higher than the serum NSE level of the control group, but there was no significant correlation. The serum NSE level of the febrile seizure group was 19.0+/-7.5 ng/mL and that of the control group was 12.8+/-5.1 ng/mL. The serum NSE level of the febrile seizure group was significantly higher than the serum NSE level of the control group. The CSF/serum ratio of NSE in the febrile seizure group was 0.7+/-0.3 and that of the control group was 1.0+/-0.5. The CSF/serum ratio of NSE in the febrile seizure group was lower than the CSF/serum ratio of NSE in the control group and there was a significant correlation. There was no significant correlation between seizure duration, serum NSE, CSF NSE, and the ratio of the CSF to the serum level of NSE. CONCLUSION: Children with febrile seizure are at relatively low risk for neuronal damage following seizures.

Neuron-Specific Enolase Levels of Serum and Cerebrospinal Fluid in Children with Febrile Seizure / 대한소아신경학회지

PURPOSE: Neuron-specific enolase(NSE) has been established as a reliable marker of neuronal damage in various neurologic disorders. The aim of this study was to evaluate whether febrile seizure cause brain damage, based on the serum and cerebrospinal fluid (CSF) levels of NSE. METHODS: Twenty-one pateints were enrolled. The maximal seizure duration was 90 mins. Blood and CSF samples for the measurement of NSE were obtained immediately after the seizure. NSE was measured using an immunoradiometric assay(IRMA). RESULTS: The CSF NSE level of the febrile seizure group was 11.7+/-2.04 ng/mL and that of the control group was 11.3+/-5.7 ng/mL. The serum NSE level of the febrile seizure group was higher than the serum NSE level of the control group, but there was no significant correlation. The serum NSE level of the febrile seizure group was 19.0+/-7.5 ng/mL and that of the control group was 12.8+/-5.1 ng/mL. The serum NSE level of the febrile seizure group was significantly higher than the serum NSE level of the control group. The CSF/serum ratio of NSE in the febrile seizure group was 0.7+/-0.3 and that of the control group was 1.0+/-0.5. The CSF/serum ratio of NSE in the febrile seizure group was lower than the CSF/serum ratio of NSE in the control group and there was a significant correlation. There was no significant correlation between seizure duration, serum NSE, CSF NSE, and the ratio of the CSF to the serum level of NSE. CONCLUSION: Children with febrile seizure are at relatively low risk for neuronal damage following seizures.

A Cilinical Study of Diarrhea-Associated Benign Infantile Convulsion / 대한소아신경학회지

PURPOSE: The aim of this study is to reveal the detailed clinical features of diarrhea- associated benign infantile convulsion. METHODS: We studied 34 patients with diarrhea-associated benign infantile convulsion between March 2000 and February 2004. RESULTS: There were 34 patients with diarrhea-associated benign infantile convulsion : 19 boys and 15 girls. The age of the disease onset ranged from 3 to 34(mean; 18.7+/-6.6) months. The incidence was high from November to March. The types of the seizures were generalized tonic-clonic or generalized tonic in 32(94%) of 34 episodes, while the seizure types changed during episodes for 2 patients. The durations of seizures were from 3 sec to 10 min. 2 or more seizures occurred in 22(64.7%) episodes. A family history of febrile or afebrile convulsions was noted in 3 patients. There were no abnormalities in serum biochemistry tests. 12 out of 22 patients showed positive rotavirus antigen tests. Interictal EEG's were normal in 26 out of 30 episodes. CT or MRI demonstrated no neuroradiological abnormalities in 13 out of 14 patients. 4 patients experienced recurrence of diarrhea-associated benign infantile convulsion, but none had more than 2 episodes. Epilepsy developed in none of the patients during the follow-up period. CONCLUSION: Diarrhea-associated benign infantile convulsion is characterized by a cluster of seizures. A continous or intermittent antiepileptic treatment is not required because recurrence or later development of epilepsy is rare. Appropriate treatment for a cluster of seizures will be the subject of future studies.

A Case of Repeated Ventricular Tachycardia Caused by Cardiac Rhabdomyomas in an Infant with Tuberous Sclerosis

Cardiac rhabdomyomas are relatively uncommon and associated with tuberous sclerosis in 40-50% cases. We report a 10-month-old infant with tuberous sclerosis who presented with ventricular arrythmias and status epilepticus. There were hypopigmented macules on the body, periventricular calcifications, renal cyst and cardiac rabdomyomas just below the aortic valve. The patient required resection of left ventricular subaortic masses due to sustained arrythmia in spite of intravenous amiodarone therapy. The pathologic examination confirmed the diagnosis of rhabdomyoma. The patient had no more arrythmia during the 14 month follow up period. Although cardiac rhabdomyomas may spontaneously regress, surgery is often necessary and frequently resolves the underlying arrythmia.

A Case of Canavan Disease

Canavan disease, also known as van Bogaert-Bertrand disease, is a rare autosomal recessive disorder characterized by early an onset and a progressive spongyform degeneration of the brain, associated with an edema of the central nerve system, intramyelinic swelling and neurologic symptoms. This disorder is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly and seizures. Canavan disease is caused by the accumulation of N-acetylaspartic acid(NAA) in the brain as the result of a deficiency of aspartoacylase(ASPA) activity. Most children are reported to have the infantile form, becoming symptomatic between three and six month of age, after unremarkable prenatal and perinatal course. We experienced a case of Canavan disease in a six day old female newborn baby, associated with seizure, degeneration of brain white matter and markedly elevated urine N-acetylaspartic acid(NAA) level. So, we report the case with a brief review of the related literature.

Concomitance of Childhood Absence Epilepsy and Benign Rolandic Spikes / 대한간질학회지

Childhood absence epilepsy (CAE) and benign epilepsy of childhood with centro-temporal spikes (BECT) are common forms of idiopathic epilepsy of childhood onset and share many features such as the marked age dependence of onset. The occurrence of generalized 3 Hz spike and waves in BECT or rolandic spikes in CAE has rarely been reported. We report 2 cases of concomitance of CAE and benign rolandic spikes. All of the two patients were female and had clinically absence seizure only. On EEG the two patients simultaneously showed centro-temporal spikes as well as ictal onset of absence seizure consisting of generalized 3 Hz spike and waves. All of the two patients have become seizure-free with valporic acid. It is rare but not impossible that (Rolandic spikes can concur with CAE rather than as a continuum between CAE and BECT), because all of the two patients have not shown BECT so far.

A Clinical Study of Aseptic Meningitis in Busan and Kyoungsangnamdo from April to July, 2002 / 대한소아신경학회지

PURPOSE: There was an outbreak of aseptic meningitis in Busan and Kyoungsangnamdo area from April to July, 2002. In this study, we reported the clinical manifestations, laboratory data and causative viruses. METHODS: 184 children with aseptic meningitis who had been admitted to Department of Pediatrics, Inje Paik Hospital in Kaegum and Dongrae between April and July 2002 were assessed. Virus isolation and serotype identification were performed by cell culture and reverse transcription-polymerase chain reaction(RT-PCR) of cerebrospinal fluid. RESULTS: The peak incidence was noted in May. Male-to-female ratio was 2:1. The age ranged from 2 years to 16 years. Mean age was 8.7+/-7.1 years. Clinical manifestations were fever(95.1%), headache(91.8%) and vomiting(89.7%). Mean duration of fever was 2.6 days. The numbers of peripheral blood leukocytes were 1,400-20,000/mm3 and mean value was 9,829/mm3. On cerebrospinal fluid examinations, leukocyte count was in range of 10-2,000(mean 301)/mm3, protein level in range of 10-196(mean 36.7)mg/dL and glucose level from 17 to 155(mean 58.3)mg/dL. Viruses were isolated 13(8.4%) out of 154 patients and serotypes were 6 cases of echovirus 6, 3 cases of echovirus 9, 1 case of echovirus 13, 2 cases of echovirus 25 and 1 case of echovirus 30. CONCLUSION: Aseptic meningitis was prevalent in Busan and Kyoungsangnamdo area from April to July, 2002. We thought that causative viruses were echovirus 6, 9, 13, 25, 30.

Mutational Analysis of MECP2 Gene in 34 Rett Syndrome

PURPOSE: Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. METHODS: Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. RESULTS: The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. CONCLUSION: MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.

The Case of Tuberous Sclerosis Occured in Mother and Two Daughters / 대한소아신경학회지

Tuberous sclerosis is an autosomal dominant disorder of cellular differentiation that affect the brain, skin, heart, kidney and other organs. We experienced three cases of tuberous sclerosis that affect multiple organs in mother and two daughters. We report these cases with brief review and related literatures.

The Study of the Initial Presentations of Wilson Disease at Diagonosis / 대한소아소화기영양학회지

PURPOSE: To review the clinical and laboratory features of patients with Wilson disease at diagnosis. METHODS: In this retrospective study, records of all 20 patients, who were diagnosed as having Wilson disease at the Paik hospital in Busan from 1990 to 2000, were reviewed. RESULTS: Out of 20 patients, 12 pateints (60%) have hepatic presentation alone, 2 patients (10%) have neurologic presentation, 4 patients (20%) have hepatic and neuropsychiatric presentation, and one patient (5%) has hematologic presentation at diagnosis. One patient (5%) has neither symptom nor laboratory finding of Wilson disease except very low serum ceruloplasmin level and positive family history. Family screening test revealed 3 cases of Wilson disease. 12 patients were revealed to be combined with liver cirrhosis at diagnosis. CONCLUSION: Early diagnosis and treatment is very important in patients with Wilson disease. Children or adolescents who manifest symptoms of hepatitis, who has prolonged elevation of liver enzymes, and has family history of hapatitis of unknown origin, with mild hematologic or urinary abnormalities must be suspected to have Wilson disease. Also, in adolescents with extrapyramidal symptoms or other neuropsychiatric symptoms, liver function test should be done.

A Case of Transverse Myelitis associated with Systemic Lupus Erythematosus

Transverse myelitis is a rare complication of systemic lupus erythematosus (SLE) and its prognosis is very poor including death or severe neurologic sequelae. We report a 14-year-old girl with transverse myelitis who was not exactly diagnosed as SLE before the onset of neurologic symptoms. Transverse myelitis was diagnosed based on the clinical presentations, cerebrospinal fluid analysis and MRI findings. We employed aggressive treatment with pulse methylprednisolone for acute episodes followed by monthly cyclophosphamide pulse therapy. For the first several months, clinical improvement of the neurologic impairment was noted, but unfortunately her neurological course was on exacerbation.

Clinical Characteristics of Cerebrovascular Disease in Infants and Children and Its Outcomes

PURPOSE: The incidence and clinical features of cerebrovascular disease in childhood were not clearly clarified in domestic. This study was undertaken to evaluate the clinical characteristics of cerebrovascular disease in infants and children, and its outcome, a retrospective study was performed to adequate management. METHODS: We reviewed clinical records of the patients who had admitted to Inje University Pusan Paik Hospital during 6 years from 1989 to June 1994. A 6-year experience with childhood cerebrovascular disease unrelated to birth, intracranial infection,leukemia associated or trauma identified 41 patients. RESULTS: There were 14cases(34%)of ischemic cerebrovascular disease as well as 27cases(66%) of hemorrhagic cerebrovascular disease. 1) The male to female ratio was 1.73:1. 2) We observed two incidence peaks in hemorrhagic stroke,one in infant(1<) and the other in 10 year old,in ischemic stroke, one in between 2-5 year, the other in between 6-10 year. 3) The presenting symptoms and signs of hemorrhagic cerebrovascular disease were altered consciousness, vomiting, headache, diarrhea but that of ischemic cerebrovascular disease were hemiparesis, seizure, altered consciousness, headache. 4) The incidence of hemorrhagic stroke was higher than ischemic stroke. 5) In hemorrhagic stroke, Arteriovenous malformation was most common, and the next was late hemorrhagic disease of infancy. 6) In ischemic stroke,moyamoya disease was most common. 7) The mortality rate in stroke was 9.7 percent,it was only in hemorrhagic stroke. 8) Hemiparesis was the commonest of the residual deficits. CONCLUSIONS: Considering above results We concluded that there was higher initial mortality rate in hemorrhagic stroke, but relatively lower residual disabilities. And since the neurologic deficit was severe in ischemic stroke in spite of proper management,so intensive managements are required for preventing disability.