BACKGROUND AND PURPOSE: Antiepileptic drug (AED)-associated cutaneous adverse drug reactions can lead to the discontinuation of medications. The aim of this study was to determine the long-term efficacy and safety of performing desensitization to oxcarbazepine. METHODS: This study involved 20 patients who exhibited cutaneous adverse drug reactions associated with oxcarbazepine use between July 2009 and March 2016 at Samsung Medical Center. All of the participants had to discontinue oxcarbazepine despite presenting initially positive responses. Human leukocyte antigen genotyping was performed to detect the genetic predisposition to Stevens-Johnson syndrome. The desensitization to oxcarbazepine was performed with a starting dosage of 0.1 mg/day. Efficacy was evaluated by comparing the frequency of seizures before and at 1 and 3 years after desensitization. Adverse events occurring during desensitization and the retention rate after desensitization were also investigated. RESULTS: Nineteen patients (95%) safely completed the desensitization protocol. One withdrew owing to emotional problems that appeared to be associated with oxcarbazepine. The follow-up period was 4.6±1.2 years (mean±SD), and oxcarbazepine was maintained for more than 3 years after desensitization in 15 patients (83.3%). The response rates were 84.2% and 77.8% at 1 and 3 years after desensitization, respectively. Eight patients remained seizure-free for 3 years, and two discontinued all AEDs. Transient adverse reactions such as mild rash and itching were reported by five patients during desensitization. CONCLUSIONS: This study has demonstrated the long-term efficacy and safety of desensitization to oxcarbazepine in patients exhibiting cutaneous adverse drug reactions. This favorable outcome should encourage the implementation of desensitization in patients presenting with hypersensitivity to oxcarbazepine as an alternative strategy in clinical practice.
Drug Resistant Epilepsy ; Drug-Related Side Effects and Adverse Reactions ; Exanthema ; Follow-Up Studies ; Genetic Predisposition to Disease ; Humans ; Hypersensitivity ; Leukocytes ; Pruritus ; Seizures ; Stevens-Johnson Syndrome

OBJECTIVE: To evaluate the value of repeat brain magnetic resonance imaging (MRI) in identifying potential epileptogenic lesions in children with initial MRI-negative focal epilepsy. MATERIALS AND METHODS: Our Institutional Review Board approved this retrospective study and waived the requirement for informed consent. During a 15-year period, 257 children (148 boys and 109 girls) with initial MRI-negative focal epilepsy were included. After re-evaluating both initial and repeat MRIs, positive results at repeat MRI were classified into potential epileptogenic lesions (malformation of cortical development and hippocampal sclerosis) and other abnormalities. Contributing factors for improved lesion conspicuity of the initially overlooked potential epileptogenic lesions were analyzed and classified into lesion factors and imaging factors. RESULTS: Repeat MRI was positive in 21% (55/257) and negative in 79% cases (202/257). Of the positive results, potential epileptogenic lesions comprised 49% (27/55) and other abnormalities comprised 11% of the cases (28/257). Potential epileptogenic lesions included focal cortical dysplasia (n = 11), hippocampal sclerosis (n = 10), polymicrogyria (n = 2), heterotopic gray matter (n = 2), microlissencephaly (n = 1), and cortical tumor (n = 1). Of these, seven patients underwent surgical resection. Contributing factors for new diagnoses were classified as imaging factors alone (n = 6), lesion factors alone (n = 2), both (n = 18), and neither (n = 1). CONCLUSION: Repeat MRI revealed positive results in 21% of the children with initial MRI-negative focal epilepsy, with 50% of the positive results considered as potential epileptogenic lesions. Enhanced MRI techniques or considering the chronological changes of lesions on MRI may improve the diagnostic yield for identification of potential epileptogenic lesions on repeat MRI.
Brain* ; Child* ; Diagnosis ; Epilepsies, Partial* ; Ethics Committees, Research ; Gray Matter ; Humans ; Informed Consent ; Magnetic Resonance Imaging* ; Malformations of Cortical Development ; Microcephaly ; Polymicrogyria ; Retrospective Studies ; Sclerosis

PURPOSE: Encephalitis is an inflammation affecting brain parenchyma. At the time of presentation, it may be difficult to differentiate between viral encephalitis and altered mental status or seizures during febrile illness. The aim of the present study is to identify the predictive factors and to determine the prognostic factors of viral encephalitis in children presenting as seizure with fever. METHODS: From the retrospective review of the medical records, children with seizures or altered mental status during febrile illness who presented to Samsung Medical Center between January 2008 and May 2013 were included in the study. RESULTS: 81 patients were enrolled in this study (female:male=32:49). The mean age at admission was 4.9±4.3 years (range 0–14 years old). The patients were categorized into two groups according to the clinical diagnosis: (1) Viral encephalitis (VIRAL ENC, n=66), (2) Complex febrile seizures imitating viral encephalitis(C-FS, n=15). The predictive factors of viral encephalitis were focal and/or lateralized abnormalities in electroencephalography (EEG) (P<0.001). CONCLUSION: EEG can be helpful to predict the viral encephalitis, in pediatric patient who shows delayed restoration of consciousness after seizure during febrile illness.
Brain ; Child ; Consciousness ; Diagnosis ; Electroencephalography ; Encephalitis ; Encephalitis, Viral* ; Fever ; Humans ; Inflammation ; Medical Records ; Retrospective Studies ; Seizures ; Seizures, Febrile

In general, intractable hiccups are uncommon. Various drugs and interventions have been reported, but there is no consensus on the treatment of intractable hiccups. We report a patient with meningitis and rhombencephalitis who presented with intractable hiccups that were resolved following treatment with benztropine. A 17-year-old boy was admitted to another hospital with a two-week history of fever and headache. A cerebrospinal fluid (CSF) test showed an increased white blood cell (WBC) count (290/muL, monocytes 100%). He was diagnosed with meningitis and treated with ceftriaxone. Two days after admission, hiccups started and lasted for eight days, despite treatment with phenobarbital, diazepam, haloperidol, phenytoin, and chlorpromazine. He was transferred to our hospital for further evaluation and treatment. He was clinically diagnosed with rhombencephalitis based upon the findings of brain magnetic resonance imaging (MRI). The fever and headache disappeared one day later. However, the hiccups persisted, despite symptomatic treatment with chlorpromazine, gabapentin, and metoclopramide. The hiccups disappeared after one day of adding benztropine without relapse. Benztropine can be considered in the treatment of intractable hiccups.
Adolescent ; Benztropine* ; Brain ; Ceftriaxone ; Cerebrospinal Fluid ; Chlorpromazine ; Consensus ; Diazepam ; Encephalitis ; Fever ; Haloperidol ; Headache ; Hiccup* ; Humans ; Leukocytes ; Magnetic Resonance Imaging ; Male ; Meningitis ; Metoclopramide ; Monocytes ; Phenobarbital ; Phenytoin ; Recurrence

BACKGROUND AND PURPOSE: Given the diverse phenotypes including combined non-dyskinetic symptoms in patients harboring mutations of the gene encoding proline-rich transmembrane protein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKD patients with PRRT2 mutations. METHODS: Familial and sporadic PKD patients were enrolled and PRRT2 gene sequencing was performed. Demographic and clinical data were compared between PKD patients with and without a PRRT2 mutation. RESULTS: Among the enrolled PKD patients (8 patients from 5 PKD families and 19 sporadic patients), PRRT2 mutations were detected in 3 PKD families (60%) and 2 sporadic cases (10.5%). All familial patients with a PRRT2 gene mutation had the c.649dupC mutation, which is the most commonly reported mutation. Two uncommon mutations (c.649delC and c.629dupC) were detected only in the sporadic cases. PKD patients with PRRT2 mutation were younger at symptom onset and had more non-dyskinetic symptoms than those without PRRT2 mutation. However, the characteristics of dyskinetic movement did not differ between the two groups. CONCLUSIONS: This is the first study of PRRT2 mutations in Korea. The presence of a PRRT2 mutation was more strongly related to familial PKD, and was clinically related with earlier age of onset and common non-dyskinetic symptoms in PKD patients.
Age of Onset ; Chorea ; Dyskinesias* ; Dystonia ; Humans ; Korea ; Phenotype

No abstract available.
Humans ; Meningioma* ; Tuberous Sclerosis*

PURPOSE: Acute necrotizing encephalopathy (ANE) is a fulminant disease of the brain characterized by bilateral thalamic lesions, and is prevalent among children in East Asia. The prognosis of ANE is usually poor with a high mortality rate and neurological sequelae. This study aimed to delineate the clinical characteristics and prognostic factors of ANE. METHODS: We retrospectively analyzed clinical data of 399 pediatric patients with encephalitis who were admitted to Samsung Medical Center from December 1998 to March 2011. We enrolled ten patients (11 cases) with ANE and analyzed their demographic, clinical, and neuroimaging data. The location and extent of the brain regions were checked based on fluid-attenuated inversion recovery, T1-, and T2-weighted imaging findings; the presence of contrast enhancement, restricted diffusion, and hemorrhage. RESULTS: Ten patients were identified, including one patient with two episodes. The median age of onset was 1.5 years (0.4-8.4 years). The mortality rate was 40%, and only 30% of patients survived without neurological sequelae. The definite involvement of the brainstem on brain magnetic resonance imaging was significantly correlated with mortality (P=0.04). CONCLUSION: Broad and extensive brainstem involvement suggested the fulminant course of ANE. Early diagnosis of ANE before brainstem involvement, through careful identification of symptoms of brain dysfunction, may be the best way to achieve better neurological outcomes.
Age of Onset ; Brain ; Brain Stem* ; Child ; Diffusion ; Early Diagnosis ; Encephalitis ; Far East ; Hemorrhage ; Humans ; Korea ; Magnetic Resonance Imaging ; Mortality ; Neuroimaging ; Pediatrics ; Prognosis ; Retrospective Studies

Wolf-Hirschhorn syndrome is a well-recognized malformation syndrome with multiple congenital anomalies, resulting from partial deletion of the short arm of chromosome 4 (4p-). All affected individuals have intrauterine and postnatal growth retardation with marked feeding difficulties, developmental delay, and intellectual disability. Additionally, most of patients have seizures from early infancy. Although seizures are common with this syndrome, presenting with status epilepticus (SE) is rare. We report two cases of Wolf-Hirschhorn syndrome presenting with SE.
Arm ; Chromosome Deletion ; Chromosomes, Human, Pair 4 ; Humans ; Intellectual Disability ; Seizures ; Status Epilepticus ; Wolf-Hirschhorn Syndrome

PURPOSE: The aim of this study was to describe the clinical manifestations and radiologic characteristics of patients with hypothalamic hamartoma (HH) and to delineate various treatment modalities.METHODS: We retrospectively reviewed the medical records of 11 patients with HH at Samsung Seoul Hospital between 1997 and 2013.RESULTS: Mean age of diagnosis was 2.7 years. Seven patients had intractable epilepsy, seven exhibited precocious puberty, and four had both. Gelastic seizure was the most common seizure and was intractable to medications. The patients with the intrahypothalamic type (18.2%) had no precocious puberty, while those with the parahypothalamic type (36.4%) didn't have seizures. Patients (n=6) with intractable epilepsy underwent gamma-knife radiosurgery (GKS); five of these patients responded to this treatment.CONCLUSIONS: The most frequent presenting symptoms of HH were gelastic seizure and precocious puberty. The location and size of tumor defined by brain magnetic resonance imaging affected presenting symptoms and the selection of surgical treatment. GKS can be considered if the patients showed intractable epilepsy and the size of tumor is less than 2 cm in diameter.
Brain ; Epilepsy ; Hamartoma ; Humans ; Magnetic Resonance Imaging ; Medical Records ; Puberty, Precocious ; Radiosurgery ; Retrospective Studies ; Seizures

The ketogenic diet has been widely used and proved to be effective for intractable epilepsy. Although the mechanisms underlying its anti-epileptic effects remain to be proven, there are increasing experimental evidences for its neuroprotective effects along with many researches about expanding use of the diet in other neurologic disorders. The first success was reported in glucose transporter type 1 deficiency syndrome, in which the diet served as an alternative metabolic source. Many neurologic disorders share some of the common pathologic mechanisms such as mitochondrial dysfunction, altered neurotransmitter function and synaptic transmission, or abnormal regulation of reactive oxygen species, and the role of the ketogenic diet has been postulated in these mechanisms. In this article, we introduce an overview about the expanding use and emerging trials of the ketogenic diet in various neurologic disorders excluding intractable epilepsy and provide explanations of the mechanisms in that usage.
Diet ; Epilepsy ; Glucose Transporter Type 1 ; Ketogenic Diet ; Metabolic Diseases ; Nervous System Diseases ; Neuroprotective Agents ; Neurotransmitter Agents ; Reactive Oxygen Species ; Synaptic Transmission