Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development.
Brain ; Cerebral Cortex ; Classification ; Drug Resistant Epilepsy ; Epilepsy ; Humans ; Magnetic Resonance Imaging ; Malformations of Cortical Development* ; Neurogenesis

Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development.
Brain ; Cerebral Cortex ; Classification ; Drug Resistant Epilepsy ; Epilepsy ; Humans ; Magnetic Resonance Imaging ; Malformations of Cortical Development* ; Neurogenesis

An epileptic seizure is defined as the transient occurrence of signs and/or symptoms due to abnormally excessive or synchronous neuronal activity in the brain. The type of seizure is defined by the mode of onset and termination, clinical manifestation, and by the abnormal enhanced synchrony. If seizures recur, that state is defined as epilepsy. Antiepileptic drugs (AEDs) are the mainstay of treatment. Knowledge about initiating and maintaining adequate AEDs is beneficial for the clinician who treats children with epilepsy. This article will delineate the general principles for selecting, introducing, and discontinuing AEDs and outline guidelines for monitoring adverse effects. In general, AED therapy following a first unprovoked seizure in children is not recommended. However, treatment should be considered after a second seizure. In children and adolescents, if they are seizure-free for at least 2 years, attempts to withdraw medication/s should be made, taking into account the risks vs. benefits for the individual patient. The decision on when and what AED to use should be tailored according to the patient. For optimal treatment, the selection of adequate AEDs can be achieved by considering the precise definition of the patient's seizure and epilepsy syndrome. Continuous monitoring of both therapeutic and adverse effects is critical for successful treatment with AEDs.
Adolescent ; Anticonvulsants ; Brain ; Child ; Epilepsy ; Humans ; Neurons ; Seizures

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

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

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.
Child, Preschool ; Chromosome Disorders/*diagnosis ; Chromosomes, Human, Pair 12 ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization ; Infant ; Male ; Tetrasomy

PURPOSE: Juvenile dermatomyositis (JDM) is a common inflammatory myopathy in childhood. However, the diagnosis is often delayed because it frequently present with non-specific symptoms. In addition, there are conflicting opinions about the prognostic factors of JDM. The aim of this study is to delineate the initial clinical symptoms and prognostic factors of JDM. METHODS: We retrospectively reviewed the medical records of 15 patients who were diagnosed as JDM, in Samsung medical center between Dec 1994 and Aug 2011. RESULTS: We enrolled 15 patients (M:F=9:6). Among the 14 patients who were followed-up for more than six months, six patients were included in remission group, five in partial remission group, and the other three in non-remission group. The initial symptoms were skin lesions (80.0%), muscle weakness (53.3%), and pain of joint or muscle (46.7%). The interval between initial symptoms and clinical diagnosis was mean 0.4 (0.1-2.4) years. Nine patients (60%) were taken more than two months for diagnosis. The symptoms at diagnosis were motor weakness and skin rash in all patients, myalgia or arthralgia in 12 (75%) patients. The mood changes such as depression, irritability, easy fatigability were noted in 10 (66.7%) patients. There were no significant prognostic factors. CONCLUSION: Although JDM may initially present with nonspecific symptoms in children, it should be suspected in case of acute progressive motor weakness with symmetric skin rash and mood change. About three quarters of the patients were under control with treatment and there were no significant prognostic factors in this study.
Arthralgia ; Child ; Depression ; Dermatomyositis ; Exanthema ; Humans ; Joints ; Medical Records ; Muscle Weakness ; Muscles ; Myositis ; Retrospective Studies ; Skin

Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was used, followed by multiplex ligation-dependent probe amplification (MLPA). Additionally, we used direct DNA sequencing for some patients who had negative results using the above methods. The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19). The percentage of deletions and duplications revealed by MLPA was 45.5% (5/11) and 27.2% (3/11), respectively. Using the MLPA method, we detected mutations confirming their carrier status in all female relatives and symptomatic female patients. In one patient in whom MLPA revealed a single exon deletion of the dystrophin gene, subsequent DNA sequencing analysis identified a novel nonsense mutation (c.4558G > T; Gln1520X). The MLPA assay is a useful quantitative method for detecting mutation in asymptomatic or symptomatic carriers as well as DMD/BMD patients.
Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; Dystrophin/*genetics ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Ligase Chain Reaction ; Male ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne/*genetics ; Mutagenesis, Insertional ; Republic of Korea ; Sequence Analysis, DNA ; Sequence Deletion

PURPOSE: This study was performed to find the applicable equations which determine the proper needle depth for lumbar puncture in Korean pediatric patients using spine magnetic resonance imaging(MRI). METHODS: The authors enrolled the patients who had spine MRI from August 2007 to June 2008 and were aged less than 20 years. Eighty eight patients whose height(Ht.) and weight(Wt.) were recorded within 10 days from spine MRI were recruited. The posterior dural depths and dural widths were measured on each L2-3, L3-4, and L4-5 levels of intervertebral space. By comparing the R squares, the most significant independent variables for posterior dural depth were selected, and by calculating malposition rate, the further insertion distance from posterior dural depth and the final puncture depth equation were determined. RESULTS: The proper puncture depths with the lowest malposition rate were as follows. L2-3 puncture depth (mm) = 126.5xWt./Ht. (kg/cm)+7.1 or 0.613xWt. (kg)+16.1 L3-4 puncture depth (mm) = 136.0xWt./Ht. (kg/cm)+7.6 or 0.656xWt. (kg)+17.3 L4-5 puncture depth (mm) = 138.3xWt./Ht. (kg/cm)+7.5 or 0.665xWt. (kg)+17.5 CONCLUSION: Lumbar puncture depth is best predicted using weight and height as independent variables. And the equations of each tap sites were different in constants. Using this formula, the rate of failure and complication in lumbar can be diminished, but it should be validated by further studies.
Aged ; Child ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Needles ; Punctures ; Spinal Puncture ; Spine

Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase(GALC) gene. The deficiency of GALC activity leads to the accumulation of psychosine, resulting in apoptosis of myelin-forming cells of the central and peripheral nervous system. The patients with typical infantile onset Krabbe disease have extreme irritability, developmental regression, spasticity, and seizures with an onset prior to six months of age. These children usually die within two years after birth. We report a female infant who showed the characteristic clinical manifestations, disease course, and neuroimaging features of infantile onset Krabbe disease that was confirmed by the identification of a compound heterozygous mutation of the GALC gene.
Apoptosis ; Child ; Female ; Galactosylceramidase ; Humans ; Infant ; Leukodystrophy, Globoid Cell ; Muscle Spasticity ; Neurodegenerative Diseases ; Neuroimaging ; Parturition ; Peripheral Nervous System ; Psychosine ; Seizures