Su Jeong You

Use of a Modified Atkins Diet in Intractable Childhood Epilepsy

Summary:  Purpose: To evaluate the efficacy, safety and tolerability of a modified Atkins diet in intractable childhood epilepsy.

Vagus Nerve Stimulation in Intractable Childhood Epilepsy: a Korean Multicenter Experience

We evaluated the long-term outcome of vagus nerve stimulation (VNS) in 28 children with refractory epilepsy. Of these 28 children, 15 (53.6%) showed a >50% reduction in seizure frequency and 9 (32.1%) had a >75% reduction. When we compared seizure reduction rates according to seizure types (generalized vs. partial) and etiologies (symptomatic vs. cryptogenic), we found no significant differences. In addition, there was no correlation between the length of the stimulation period and treatment effect. The seizure reduction rate, however, tended to be inversely related to the seizure duration before VNS implantation and age at the time of VNS therapy. VNS also improved quality of life in this group of patients, including improved memory in 9 (32.1%), improved mood in 12 (42.9%), improved behavior in 11 (39.3%), improved altertness in 12 (42.9%), improved achievement in 6 (21.4%), and improved verbal skills in 8 (28.6%). Adverse events included hoarseness in 7 patients, dyspnea at sleep in 2 patients, and wound infection in 1 patient, but all were transient and successfully managed by careful follow-up and adjustment of parameters. These results indicate that VNS is a safe and effective alternative therapy for pediatric refractory epilepsy, without significant adverse events.

Epilepsy surgery in a patient with Lennox-Gastaut syndrome and cortical dysplasia.

Lennox-Gastaut syndrome (LGS) is classified as a generalized epilepsy, and is often intractable to antiepileptic drugs. Although corpus callosotomy may sometimes control drop attacks, curative epilepsy surgery is rarely possible in LGS. We report, here, a patient with LGS and focal cortical dysplasia, who became seizure-free after epilepsy surgery. The patient was a 24-month-old boy without perinatal insult in whom seizures began 7 days after birth and who experienced development delay. Brain magnetic resonance imaging (MRI) showed focal cortical lesion with calcification in the right frontal area. At age 13 months, his seizure type changed from tonic seizures to head drops (atonic types) and atypical absence seizures. His interictal electroencephalogram (EEG) showed generalized slow spike and wave discharges, and he was diagnosed with LGS. His seizures were intractable to medical treatment, and a ketogenic diet was not effective. He was evaluated prior to surgery by long-term video-EEG monitoring, which detected many seizures consisted of a sudden onset of falling attacks (atonic type) intermittently followed by atypical absence seizures with diffuse slow wave bursts followed by slow spike and wave discharges in ictal EEG, brain positron emission tomography (PET) and MRI. A right frontal lesionectomy with intra-operative electrocorticography (EcoG) was performed. From the time of lesionectomy to the present, the patient has been seizure free and has been developing normally. Our results suggest that focal resective surgery should be considered in patients with LGS and focal epileptic lesions.

Comparison of short- versus long-term ketogenic diet for intractable infantile spasms

Purpose:  To compare the prognoses between short‐term (8 months) and conventional long‐term (>2 years) trials involving patients with refractory infantile spasms who successfully completed the ketogenic diet (KD).

Factors Influencing the Evolution of West Syndrome to Lennox-Gastaut Syndrome

This study examines factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome. The study population comprised 98 patients diagnosed with West syndrome and monitored for at least 3 years. During follow-up, West syndrome evolved to Lennox-Gastaut syndrome in 48 of the 98 patients. Etiology analysis indicated that West syndrome was cryptogenic in 36 patients (36.7%) and symptomatic in 62 (63.3%). West syndrome was managed with antiepileptic drugs in 31 patients, ketogenic diets in 33 patients, hormonal therapy with prednisolone in 45 patients and with adrenocorticotropic hormone in 15 patients, epileptic surgery in 3 patients, and either no treatment or only herbal medication in 4 patients. The risk of developing Lennox-Gastaut syndrome was significantly lower in patients who were placed on a ketogenic diet, given prednisolone or adrenocorticotropic hormone, or treated with a combination of these two therapies (bivariate logistic regression analysis, P < 0.05). There was no relationship between the development of Lennox-Gastaut syndrome and age at West syndrome onset or disease etiology. In conclusion, a ketogenic diet and hormonal therapy may play key roles in preventing encephalopathy in patients with West syndrome.

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.

A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: A clinical and cognitive evaluation

PURPOSE We conducted a prospective, multicenter, open label trial to evaluate the effectiveness of oxcarbazepine (OXC) oral suspension as monotherapy for children newly diagnosed with partial seizures. METHODS This trial included a two- to eight-week titration and stabilization period to achieve effective target doses and a 24-week maintenance phase. The primary outcome measure was the seizure-free rate over six months, while a secondary measure was the change in cognition and behavior from screening to the end of the maintenance phase. The effectiveness of OXC was compared in intellectually normal versus intellectually impaired children (intelligence quotient <70). RESULTS We enrolled 171 patients and analyzed 168 as the per-protocol (PP) group (3 patients had protocol violations). The mean age of the PP group was 8.4±2.7 years. The maintenance dose of OXC was 24.9±8.0mg/kg/day. Of the 168 patients included in the efficacy analysis, 122 (72.6%) completed the study and 94 (56.0%) became seizure-free after the OXC treatment. Comparing the efficacy of OXC for intellectually normal and intellectually impaired patients, 79 (56.8%) of the 139 intellectually normal patients and 15 (51.7%) of the 29 intellectually impaired patients became seizure-free (P=0.61). After treatment, intelligence scale scores improved in intellectually normal patients compared to the intellectually impaired children (P<0.05). Social problems quantified by behavior scales improved in intellectually impaired patients compared to intellectually normal children (P<0.05). CONCLUSIONS OXC is effective and well-tolerated as monotherapy in children with partial seizures. There was no difference in the effectiveness of OXC between intellectually normal and intellectually impaired children.

Cognitive function of idiopathic childhood epilepsy

Most children with epilepsy are of normal intelligence. However, a significant subset will have temporary or permanent cognitive impairment. Factors that affect cognitive function are myriad and include the underlying neuropathology of the epilepsy, seizures, epileptiform discharges, psychosocial problems, age at seizure onset, duration of epilepsy, and side effects associated with antiepileptic drugs. This review article discusses cognitive function in children with idiopathic epilepsy and the effects of antiepileptic drugs on cognitive function in children.

A case of acute necrotizing encephalopathy associated with parainfluenza virus infection

Acute necrotizing encephalopathy (ANE) may be suspected when a young child presents with abrupt onset of altered mental status, seizures, or both. Definitive clinical diagnosis is based on magnetic resonance imaging (MRI) results. ANE is associated with influenza virus infections. Preliminary data suggests that up to 25% of ANE patients die, and up to 25% of ANE survivors develop substantial neurologic sequelae. Here, we describe a case of a comatose 22-month-old girl who was admitted to our hospital because of febrile illness and seizures. On day 13 of her illness, she died from ANE associated with infection from parainfluenza virus. Brain MRI results indicated diffuse bilateral symmetric signal changes in both basal ganglia, thalami, periventricular white matter, pons, and cerebral white matter, as well as generalized swelling of the brain.

Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia

Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α‐1 subunit of the inhibitory glycine receptor (GLRA1) were reported as causes of STHE. Recently, we encountered a Korean male infant with generalized stiffness that was observed from the first 3 days of life. The abnormal startle response was evident from the fourth week of life, and he showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. Direct sequencing analysis of the infant and his parents revealed a de novo variation (c.910A>C) in the GLRA1 gene, resulting in a novel Lys304Gln missense mutation.