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ABSTRACT: OBJECTIVE: Clobazam (CLB) is a 1,5-benzodiazepine, which is known to be effective for treating refractory partial epilepsy. We have evaluated the long-term efficacy and tolerability of CLB as an add-on therapy in patients with Lennox-Gastaut syndrome (LGS). METHODS: Forty-six patients with LGS who had received CLB add-on therapy were enrolled in this study. We retrospectively reviewed their clinical characteristics, including type of seizures, use of CLB, efficacy, adverse events, and retention rate. RESULTS: The mean±SD dose of CLB was 0.70±0.37 mg/kg per day (range, 0.16-1.60 mg/kg per day). After 1 month on CLB, 15 patients (32.6%) became seizure-free and 10 patients (21.7%) had 50% or greater seizure reduction. Response to CLB was not significantly associated with age, sex, or etiology (symptomatic or not). Five (10.8%) of 46 patients maintained seizure remission for more than 12 months. Tolerance developed in 48.0% of initial responders, and the 3-year retention rate by the Kaplan-Meier method was 76.6%. Seven patients (15.2%) reported adverse events, including somnolence and behavioral change, but only one discontinued CLB. CONCLUSIONS: Clobazam add-on therapy was effective and very tolerable in patients with LGS.
Clinical neuropharmacology 01/2013; 36(1):4-7. · 2.35 Impact Factor
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ABSTRACT: Myotubular myopathy (MTM) is a congenital myopathy characterized by centrally placed nuclei in muscle fibers. Mutations in the myotubularin 1 gene (MTM1) have been identified in the most of the patients with the X-linked recessive form.
This report describes two male infants with X-linked MTM (XLMTM). Both patients presented with generalized hypotonia and respiratory difficulties since birth. We did not perform a muscle biopsy in either patient, but their conditions were diagnosed by genetic testing of MTM1. One splicing mutation, c.63+1G>C, and a frame-shift mutation, c.473delA (p. Lys158SerfxX28), were identified. Neither mutation has been reported previously.
Genetic testing for MTM1 is helpful for the differential diagnosis of floppy male infants. We suggest that advanced molecular genetic testing may permit a correct diagnosis while avoiding invasive procedures.
Journal of Clinical Neurology 01/2013; 9(1):57-60. · 1.69 Impact Factor
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ABSTRACT: Hemophagocytic lymphohistiocytosis (HLH) is a rare multisystem disorder that frequently involves the central nervous system (CNS). We compared the clinical characteristics, treatment, and prognosis of patients with HLH according to the degree of CNS involvement.
The clinical manifestations, initial laboratory data, treatment, and outcomes for 50 patients diagnosed with HLH and treated at Asan Medical Center between January 1995 and August 2011 were retrospectively reviewed and analyzed. CNS involvement was defined as the presence of neurological symptoms or an elevated white blood cell (WBC) count in the cerebrospinal fluid (CSF).
Among these 50 patients, 23 (46%) developed CNS disease. Among patients with CNS disease, 19 had neurological symptoms, including seizures, altered consciousness, facial palsy, dysarthria, and dysphagia. Four patients had elevated CSF WBC counts without neurological symptoms. Twelve patients had abnormal brain imaging results, including high signal intensity lesions on T2-weighted magnetic resonance imaging (MRI) findings, ventriculomegaly, hemorrhage, atrophy, and leptomeningeal enhancement. Patients with CNS disease had lower ferritin, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) levels as well as reduced 5-year survival as compared to those without CNS disease.
CNS involvement is common among patients with HLH. Overall, patients with CNS disease achieve poorer outcomes than patients without CNS involvement. To improve outcomes, physicians must carefully monitor the neurological manifestations in patients with HLH and administer the appropriate course of intensified chemotherapy to patients with CNS disease.
The Korean journal of hematology 12/2012; 47(4):273-80.
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ABSTRACT: PURPOSE: Rufinamide is a novel antiepileptic drug (AED), which is known to be effective in the treatment of partial seizures and drop attacks in patients with Lennox-Gastaut syndrome (LGS). The aim of this study is to evaluate the efficacy and tolerability of rufinamide in those with LGS. METHODS: Patients with LGS who had received rufinamide adjunctive therapy were enrolled in this study. We retrospectively reviewed these patient's baseline clinical characteristics, and the reduction of seizure frequency and adverse events after the use of rufinamide. RESULTS: Twenty-three patients (15 males and 8 females, ages 4-22 years) were enrolled in the study. All the patients suffered from daily head drops and tonic seizures despite multiple antiepileptic drugs. After one month of rufinamide, one patient (4.3%) achieved freedom from seizures, ten (43.5%) achieved a ≥50% decrease in seizure frequency. After six months of rufinamide, eight patients (34.8%) maintained a satisfactory response (seizure free in one, and greater than 50% seizure reduction in seven). Adverse events were reported in six (26.0%) patients, which were somnolence in three, aggressive behavior in two, and aggravation of seizure in one patient. CONCLUSIONS: Our results suggest that rufinamide is effective and safe in children and young adults with LGS.
Clinical neurology and neurosurgery 10/2012; · 1.30 Impact Factor
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ABSTRACT: Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental delays, and spasticity, and genetic analysis can confirm the diagnosis. Further diagnostic manifestations of the disease include a lack of myelination on brain magnetic resonance (MR) imaging and aberrant N-acetyl aspartate (NAA) and choline concentrations that reflect axonal and myelination abnormalities on phroton MR spectroscopy. We report 5 cases of PMD (in 1 girl and 4 boys). PLP1 duplication was detected in 2 patients. Brain MR analyses and MR spectroscopy were performed for all the patients. The brain MR images showed white matter abnormalities typical of PMD, and the MR spectroscopic images showed diverse patterns of NAA, creatinine, and choline concentrations. We propose that MR spectroscopic analysis of metabolic alterations can aid the PMD diagnosis and can contribute to a better understanding of the pathogenesis of the disease.
Korean Journal of Pediatrics 10/2012; 55(10):397-402.
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ABSTRACT: Tuberous sclerosis complex is a genetic disorder resulting in epilepsy and mental retardation. Vigabatrin has shown efficacy in the treatment of infantile spasms caused by tuberous sclerosis complex, but its effects on focal seizures caused by tuberous sclerosis complex have not been determined. We compared the efficacy of vigabatrin in patients with tuberous sclerosis complex-induced focal seizures and infantile spasms and assessed the mental outcomes in both groups. We retrospectively evaluated 31 children with tuberous sclerosis complex and epilepsy, who were treated with vigabatrin in a single tertiary center in Seoul, Korea. Vigabatrin treatment resulted in spasms cessation in 16 of 18 (88.9%) patients with infantile spasms, whereas 6 of 13 (46.2%) patients with focal seizures became seizure free. Initial response to vigabatrin had no effect on intellectual disability. Vigabatrin was highly effective in eliminating infantile spasms caused by tuberous sclerosis complex but was less effective in patients with focal seizures.
Journal of child neurology 06/2012; · 1.59 Impact Factor
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ABSTRACT: Objective: Angelman syndrome is a genetic syndrome resulted from a lack of UBE3A gene expression of the maternally inherited abnormalities of chromosome 15q11-q13. About 90% of patients with Angelman syndrome experience epilepsy and its distinctive electroencephalographic changes. Epilepsy predominates in childhood, but may persist in adulthood. The seizure types may be quite varied and sometimes difficult to control. Methods: We retrospectively reviewed and analyzed data of 18 patients with genetically and clinically confirmed Angelman syndrome at Asan Medical Center. Results: An analysis of 53 electroencephalography (EEG) records from 18 patients showed that diffuse slow-wave background patterns were significantly associated with uncontrolled periods of epilepsy. Moreover, epileptiform discharges tended to shift from posterior to anterior head regions over time after an initial normal pattern at a young age. Conclusions: Children with Angelman syndrome follow general developmental patterns, with specific patterns of EEG reflecting the maturational pattern of the brain and epileptic activity.
Brain & development 06/2012; · 1.74 Impact Factor
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So-Hee Eun,
Baik-Lin Eun,
Joon Soo Lee,
Yong Seung Hwang,
Ki Joong Kim,
Young-Mock Lee,
In Goo Lee,
Munhyang Lee, Tae-Sung Ko,
Jeong Tae Kim,
Soyong Eom,
Heung Dong Kim
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ABSTRACT: To compare the cognitive and behavioral effects of lamotrigine (LTG) to carbamazepine (CBZ) as monotherapy for pediatric epilepsy. A multicenter, randomized, open-label, parallel-group clinical trial was conducted in children with partial-onset seizures. LTG or CBZ was prescribed as monotherapy for previously untreated children and titrated over 8weeks, followed by maintenance for 24weeks. Outcome measures were change in cognition and behavior in a combined analysis of standardized measures from screening to the end of the maintenance phase, as well as antiepileptic efficacy and tolerability. A total of 67 children completed the study, including 32 of 43 (74.4%) treated with LTG and 35 of 41 (85.4%) treated with CBZ. Seizure-free outcomes did not differ between the intent-to-treat populations (53.5% LTG, 56.1% CBZ; p=0.81). There were no statistically significant differences in the intelligence of the two groups after treatment. Externalizing behavior problems improved in the CBZ group (p<0.05). However, there were no significant differences between the two groups in terms of externalizing behavior. The parents' report on the Conner scale showed an improvement in the CBZ group compared to the LTG group (p<0.05). LTG and CBZ showed similar efficacy and cognitive effects in treating childhood partial epilepsy. However, CBZ showed more benefits in improving externalizing behaviors.
Brain & development 04/2012; 34(10):818-23. · 1.74 Impact Factor
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ABSTRACT: Fukuyama congenital muscular dystrophy is characterized by generalized muscle weakness and disturbances in central nervous system migration. Although this disorder is caused by mutations in the fukutin gene, which encodes a protein associated with the hypoglycosylation of α-dystroglycan, the specific functions of fukutin protein are largely unknown. In addition to being found in muscle and brain, α-dystroglycan is expressed in various other tissues including peripheral nerves, suggesting that deficiencies in fukutin may result in abnormal myelination of peripheral nerves due to the aberrant glycosylation of Schwann cell α-dystroglycan. This report describes a 7-year-old girl with Fukuyama congenital muscular dystrophy and demyelinating peripheral polyneuropathy.
Journal of child neurology 02/2012; · 1.59 Impact Factor
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ABSTRACT: The syndrome of malignant migrating partial seizures in infancy (MMPSI) is characterized by onset before the age of 6 months, nearly continuous electrographic seizures involving multiple independent areas of onset in both hemispheres, and poor developmental outcome. This report presents a case involving a patient with MMPSI, who later developed West syndrome. At the age of 2 months old, he showed multifocal partial seizures, which were refractory to antiepileptic drugs. His electroencephalogram (EEG) revealed characteristic migrating multifocal epileptiform activities and neuroimaging finding was normal. The focal seizures were refractory to antiepileptic drugs and ketogenic diet. When he was 9 months old, epilepic spasms were observed with hypsarrhythmia on EEG. He also showed severe developmental delay. MMPSI may be a continuum of infantile epileptic encephalpathy and could evolve to West syndrome.
Brain & development 12/2011; 34(9):768-72. · 1.74 Impact Factor
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ABSTRACT: A 10-year, retrospective review of the risk factors and clinical outcome of childhood ischemic stroke treated in a single tertiary care center was conducted. Sixty-two children were identified (33 boys and 29 girls), ages 1 month to 17 years. Risk factors included vasculopathy (35.5%), cardiac disease (17.4%), metabolic disorder (14.5%), infection (14.5%), and coagulopathy (1.6%). Nine patients (14.5%) had no identifiable cause of stroke and 1 patient had 2 risk factors. Hemiplegia (69.3%) and seizures (32.3%) were the most common presenting features, and seizures were significantly more frequent in children <12 months of age than in older children (71.4% vs 20.8%, P = .001). Recurrence of stroke occurred in 55.6% of patients with metabolic disorder, 33.3% of those with cardiac disease, and 19.0% of those with vasculopathy. Vasculopathy including moyamoya disease was the most important risk factor for ischemic stroke in Korea, and their prognosis were varied with the etiology of stroke.
Journal of child neurology 09/2011; 27(4):485-91. · 1.59 Impact Factor
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ABSTRACT: This study was designed to investigate the effects of β-hydroxybutyrate (BHB) on pilocarpine-induced seizures in young mice. Eighty-five male, postnatal day 21, ICR mice were used. All mice were pretreated with scopolamine methylbromide (1 mg/kg) 30 min prior to pilocarpine administration. Experimental mice (n=46) were injected intraperitoneally with BHB (20 mmol/kg), 15 min prior to pilocarpine administration; control animals (n=39) were administered normal saline. Pilocarpine (300 mg/kg) was then administered intraperitoneally to induce seizures. Mice were monitored for 2 h after pilocarpine injection, and seizure behavior grades were evaluated according to Racine's scale. All mice developed typical seizure behaviors of grade 3 or higher. Although the severity in terms of seizure behavior grade was not significantly different between groups, the mean (±SD) latency to the onset of seizure was significantly prolonged in BHB-treated mice (5.15±2.19 min) compared with controls (2.95±1.06 min; p<0.001). This study demonstrates that treatment with BHB significantly prolongs the latency to the onset of seizures induced by pilocarpine in mice and suggests that BHB, one of the ketone bodies, may be direct anticonvulsant.
Brain & development 06/2011; 34(3):181-4. · 1.74 Impact Factor
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ABSTRACT: We characterized the neuropsychological status of children with newly diagnosed idiopathic childhood epilepsy and measured differences in IQ between children with different types of epilepsy. The Korean Education Development Institute-Wechsler Intelligence Scale for Children (KEDI-WISC) was administered to 72 patients (35 males and 37 females), of mean age 8.7±2.6 years, with newly diagnosed idiopathic childhood epilepsy. Of these patients, 22 (30.6%) had generalized epilepsy, 48 (66.7%) localization-related epilepsy, and 2 (2.8%) mixed epilepsy. Children with generalized epilepsy and benign childhood epilepsy with centro-temporal spikes (BCECTS) were of similar verbal IQ and full-scale IQ, although performance IQ was significantly lower in patients with generalized epilepsy. Among children with BCECTS, those with unilateral spikes had higher full-scale and performance IQ scores than those with bilateral spikes. Follow-up studies on large numbers of patients are needed to determine the effects of epilepsy per se, and antiepileptic drugs, on intelligence.
Brain & development 01/2011; 33(8):666-71. · 1.74 Impact Factor
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ABSTRACT: Focal epileptogenic lesions can manifest as infantile spasms, a catastrophic type of epilepsy. Although early surgery for catastrophic epilepsies has shown positive effects, little is known regarding long-term outcomes. The present study examined long-term outcomes in patients with localization-related infantile spasms treated surgically.
Data from localization-related infantile spasm cases treated surgically between 1998 and 2002 at the Asan Medical Center were retrospectively reviewed. Presurgical evaluation, surgery, postoperative seizure frequency and developmental outcome data were analyzed.
Five patients met the inclusion criteria, and had etiologies of tuberous sclerosis, fetal infection, encephalomalacia, malformation of cortical development and low-grade astrocytoma, respectively. The mean seizure onset age was 5.4 months (range, 3 days to 11 months), and the mean age at surgery was 19 months (range, 9-29 months). Two patients underwent a functional hemispherectomy, and the remaining three underwent lesionectomy or temporal lobectomy. The follow-up duration was 6-9 years. We found that following surgery, 4 of the 5 patients were seizure-free at the final follow-up. The 2 patients with low grade astrocytoma and cortical dysplasia, respectively showed relatively good developmental outcomes.
Surgery may be an excellent option for treating selected patients with infantile spasms due to unilateral or focal congenital or early-acquired cortical lesions. However, developmental outcomes appear to be strongly linked to etiology and the pre-operative developmental level.
Clinical neurology and neurosurgery 12/2010; 113(3):213-7. · 1.30 Impact Factor
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ABSTRACT: To the Editor: Since the World Health Organization declared a global pandemic of influenza A pandemic (H1N1) 2009 in June 2009, the number of cases of this strain of influenza has steadily risen. Although most cases have been mild, with complete and uneventful recovery, multiple cases of severe infection with complications, including death, have been reported. Yet the neurologic complications of this virus have been rarely described. We read with interest the article by Kitcharoen et al. (1) concerning a patient with encephalopathy associated with pandemic (H1N1) 2009, which progressed to produce quadriplegia with diffuse sensory loss. In that study, however, pandemic (H1N1) 2009 virus was not isolated from the patient's cerebrospinal fluid (CSF) or brain tissue or detected by reverse transcription-PCR (RT-PCR). We report a case in an adolescent patient with encephalopathy-associated pandemic (H1N1) 2009 that was confirmed by real-time RT-PCR of CSF.
Emerging Infectious Diseases 11/2010; 16(11):1811-3. · 6.79 Impact Factor
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ABSTRACT: Andersen cardiodysrhythmic periodic paralysis or Andersen-Tawil syndrome includes the distinct clinical features of periodic paralysis, cardiac arrhythmia, and facial and skeletal dysmorphisms and exhibits autosomal dominant inheritance. Mutations in the KCNJ2 gene, which encodes the human inward rectifier potassium channel Kir2.1, have been identified in the majority of cases. Despite well-established clinical and molecular characteristics, treatment is still case oriented, and timely diagnosis could be delayed because of the low incidence and phenotypic heterogeneity of this disease. This article describes the clinical and molecular features of 3 cases of Andersen-Tawil syndrome in 2 families. One of the mutations (G144D) was located in the pore selectivity filter residue (which is mutated recurrently) and was considered novel. Intermittent muscle weakness in childhood warrants careful evaluation of cardiac dysrhythmia and skeletal anomalies.
Journal of child neurology 04/2010; 25(4):490-3. · 1.59 Impact Factor
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ABSTRACT: Idiopathic focal epilepsies in childhood including benign childhood epilepsy with occipital paroxysms (BEOP) or benign childhood epilepsy with centro-temporal spikes (BCECTS) are characterized by specific focal electrographic patterns as the name indicates. Generalized spike-wave discharges in children with idiopathic focal epilepsy can suggest a neurobiological continuum with the idiopathic generalized epilepsies. We assessed the prevalence of generalized epileptiform discharges and generalized seizures in BEOP/BCECTS patients.
Between August 2005 and November 2008, we identified 220 cases with electroclinical features typical of idiopathic focal epilepsies, 172 patients with BCECTS and 48 patients with BEOP, excluding patients whose neurological examinations or brain MRI were abnormal. We analyzed gender, age at onset, manifestation of generalized seizures, and serial EEG records to detect generalized abnormalities.
Of our population, 42 patients (19.1%, 22 boys), 30 (17.4%) of 172 BCECTS patients and 12 (25.0%) of 48 BEOP patients, showed generalized spike-wave discharges once or more during follow-up. The typical 3-Hz generalized spike wave discharge was noticed in 7 patients and concurrence with clinical generalized seizure was observed in 11.
A relatively high incidence of generalized spike-wave discharge and concurrence with generalized seizure were observed in patients with BEOP/BCECTS, with the incidence being higher in BEOP patients than in those with BCECTS. It may be inferred that idiopathic focal epilepsy is not a fixed syndrome but is a part of a broad, age-related, benign, seizure susceptibility syndrome.
Seizure 03/2010; 19(4):222-5. · 1.80 Impact Factor
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ABSTRACT: 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.
Journal of Korean medical science 02/2010; 25(2):324-6. · 0.84 Impact Factor
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ABSTRACT: Objectives. Vagus nerve stimulation (VNS) is an accepted treatment for medically intractable epilepsy. However, predictive factors associated with responsiveness to VNS remained unclear. We therefore sought to identify predictive factors that influence responsiveness to VNS in both children and adults. Materials and Methods. We evaluated a retrospective series of 31 patients who underwent VNS for intractable epilepsy at Asan Medical Center from 1998 to 2006. Eighteen patients were younger than 18 years, while 13 patients were aged 18 years or older. We assessed mean seizure frequency, the number of antiepileptic drugs each patient was taking, seizure type, etiology, age at seizure onset, age at implantation, and duration of epilepsy. Results. Forty-three percent of all patients had a seizure reduction of more than 50%. Ten (59%) children had a 50% reduction in their seizures, while three adults (23%) had such a response. Two factors were significantly different between responders and non-responders: age at implantation and age of seizure onset. In a logistic regression analysis, however, no factors were independently associated with the response to VNS. Transient hoarseness and cough were observed in eight of all patients and wound infection and generator failure in one patient each. Conclusions. These results suggest that VNS may be a more effective treatment in children with intractable epilepsy than in adults. It remains difficult to predict which patients will respond to VNS therapy.
Neuromodulation 01/2010; 13(1):44-9. · 1.19 Impact Factor
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ABSTRACT: This open study explored whether methylphenidate could be tolerated and effective in improving the quality of life (QOL) and attention deficit hyperactivity disorder (ADHD) symptoms of children with epilepsy and ADHD. Twenty-five subjects (aged 10.1 +/- 3.0 years) with ADHD and epilepsy were recruited at an outpatient clinic in Seoul, Korea. We used the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE), ADHD rating scale (ARS) and clinical global impression (CGI) in this study. Osmotic-controlled release oral delivery system (OROS) methylphenidate, 1.0 +/- 0.4 mg/kg/day, was administered for 55.2 +/- 7.5 days. The QOL subscales including physical restriction (p = 0.005), self-esteem (p = 0.002), memory (p < 0.001), language (p = 0.005), other cognition (p < 0.001), social interaction (p = 0.002), behaviour (p < 0.001), general health (p = 0.002) and QOL (p < 0.001) were significantly increased and the ARS (p < 0.001) and CGI-Severity of illness scores (p < 0.001) were significantly reduced after medication. Although 60% of subjects had experienced adverse effects, most were tolerable and only two subjects withdrew from the study owing to unbearable adverse effects (anorexia and insomnia). Two subjects had seizure attacks during the study period without having to discontinue the trial drug. Despite limitations related to the small sample size and the open design of the present pilot study, our results suggest that OROS methylphenidate may be well tolerated and effective in reducing ADHD symptoms and improving QOL in this patient population.
Epileptic disorders: international epilepsy journal with videotape 12/2009; 11(4):301-8. · 1.50 Impact Factor
