Eun Hye Lee

Effectiveness and tolerability of rufinamide in children and young adults with Lennox-Gastaut syndrome: a single center study in Korea.

PURPOSEnRufinamide 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.nnnMETHODSnPatients with LGS who had received rufinamide adjunctive therapy were enrolled in this study. We retrospectively reviewed these patients baseline clinical characteristics, and the reduction of seizure frequency and adverse events after the use of rufinamide.nnnRESULTSnTwenty-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.nnnCONCLUSIONSnOur results suggest that rufinamide is effective and safe in children and young adults with LGS.

Neuropsychological status of children with newly diagnosed idiopathic childhood epilepsy

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.

Risk Factors and Clinical Outcomes of Childhood Ischemic Stroke in a Single Korean Tertiary Care Center

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.

A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy.

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.

Long-term use of clobazam in Lennox-Gastaut syndrome: experience in a single tertiary epilepsy center.

ObjectiveClobazam (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). MethodsForty-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. ResultsThe 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. ConclusionsClobazam add-on therapy was effective and very tolerable in patients with LGS.

A comparative study of febrile and afebrile seizures associated with mild gastroenteritis.

PURPOSEnSeizures associated with mild gastroenteritis have been increasingly reported. We analyzed the clinical characteristics of febrile and afebrile seizures associated with mild gastroenteritis, and attempted to determine the influence of fever in these two groups.nnnMETHODSnWe reviewed the medical records of 59 children presenting with seizures during a mild gastroenteritis episode. They were classified into an afebrile group (n=27) and a febrile group (n=32). We compared the age of onset, sex, seizure semiology, frequency, duration, family history, and prior history of seizures between the two groups.nnnRESULTSnThe mean age, family history, seizure semiology, and frequency of seizures were not significantly different between the two groups. However, more patients in the afebrile group experienced ≥ 2 seizures/day than in the febrile group (63% vs. 38%, p=0.051). The febrile patients had a tendency of experiencing prolonged seizures lasting ≥ 5 min compared with the afebrile group (34% vs. 11%, p=0.063). Prior febrile seizures were noted in 5 of the 32 patients (15.6%) in the febrile group, while none of the 27 patients in the afebrile group had a history of prior seizures (p=0.056).nnnCONCLUSIONSnIt seems that the presence of fever may influence the clinical characteristics of seizures associated with mild gastroenteritis. We suggest that afebrile seizures associated with gastroenteritis may be regarded as a distinct condition from those associated with fever, and it needs to be clarified by a further large sample study.

Implications of slow waves and shifting epileptiform discharges in Angelman syndrome.

OBJECTIVEnAngelman 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.nnnMETHODSnWe retrospectively reviewed and analyzed data of 18 patients with genetically and clinically confirmed Angelman syndrome at Asan Medical Center.nnnRESULTSnAn 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.nnnCONCLUSIONSnChildren with Angelman syndrome follow general developmental patterns, with specific patterns of EEG reflecting the maturational pattern of the brain and epileptic activity.

Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome

Purpose To investigate the efficacy of topiramate monotherapy in West syndrome prospectively. Methods The study population included 28 patients (15 male and 13 female children aged 2 to 18 months) diagnosed with West syndrome. After a 2-week baseline period for documentation of the frequency of spasms, topiramate was initiated at 2 mg/kg/day. The dose was increased by 2 mg/kg every week to a maximum of 12 mg/kg/day. Clinical assessment was based on the parents report and a neurological examination every 2 weeks for the first 2 months of treatment. The baseline electroencephalograms (EEGs) were compared with the post-treatment EEGs at 2 weeks and 1 month. Results West syndrome was considered to be cryptogenic in 7 of the 28 patients and symptomatic in 21 patients. After treatment, 11 patients (39%) became spasm-free, 6 (21%) had more than 50% spasmsreduction, 3 (11%) showed less than 50% reduction, and 8 (29%) did not respond. The effective daily dose for achieving more than 50% reduction in spasm frequency, including becoming spasm-free, was found to be 5.8±1.1 mg/kg/day. Nine patients (32%) showed complete disappearance of spasms and hypsarrhythmia, and 11 (39%) showed improved EEG results. Despite adverse events (4 instances of irritability, 3 of drowsiness, and 1 of decreased feeding), no patients discontinued the medication. Conclusion Topiramate monotherapy seems to be effective and well tolerated as a first line therapy for West syndrome and is not associated with serious adverse effects.

Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations

Background 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. Case Report 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. Conclusions 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.

High Remission Rate of Chronic Immune Thrombocytopenia in Children: Result of 20-Year Follow-Up

Purpose This study examined the outcomes of children with chronic immune thrombocytopenia (ITP). Materials and Methods We retrospectively analyzed the medical records of all patients diagnosed with ITP from January 1992 to December 2011 at our institution. Results A total of 128 patients (64%) satisfied the criteria for newly diagnosed ITP, 31 (15%) for persistent ITP, and 41 (21%) for chronic ITP. The median age at diagnosis was 4.5 years (range, 1 month to 18 years). The median platelet count at diagnosis was 32×109/L. A comparison of the initial treatment data from 2001 to 2011 with those from 1992 to 2000 showed that the number of bone marrow examinations decreased, whereas observation increased. Chronic ITP presented at an older age than newly diagnosed and persistent ITP (6.6 years vs. 3.8 years vs. 4.1 years, respectively); however, the difference did not reach statistical significance (p=0.17). The probability of complete remission of chronic ITP was 50% and 76% at 2 and 5 years after diagnosis, respectively. Patients aged <1 year at diagnosis had a significantly better prognosis than did older patients (hazard ratio, 3.86; p=0.02). Conclusion Children with chronic ITP showed a high remission rate after long-term follow-up. This study suggests that invasive treatments such as splenectomy in children with chronic ITP can be delayed for 4 to 5 years if thrombocytopenia and therapeutic medication do not affect the quality of life.