• Proceedings of the KSMRM Conference
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• 2001.11a
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• pp.172-172
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• 2001

Purpose： To evaluate compensatory change of opposite hippocampus after temporal lobe surgery in th patient with temporal lobe epilepsy by using single-voxel proton MR spectroscopy. Method： Eighteen patients with intractable temporal lobe epilepsy (TLE) whose MR diagnos was unilateral hippocampal sclerosis (n=11) or localized unilateral anterior temporal lobe lesio (n=7) and who underwent anterior temporal lobectomy were included in the study. Singl proton MRS of opposite hippocampus was carried out on the same day or within 1 week af MR imaging before temporal lobe surgery and after over 1-year post-surgical follow-u Single voxel proton MRS were acquired using GE signa 1.5T scanner and spectrosco system (TR, 1500-2, 000： TE, 136-144). Region of interest (ROI) was placed in a simitar position for all examination to cover the medial temporal lobes including most of the head an body of hippocampus and a part of amygdala, the parahippocampal gyrus. The MR spectr were evaluated with a focus on the metabolite ratio of N-acetylaspartate (NAA choline-containing phospholipids (Cho), creatine (Cr). The metabolite ratios of NAA/ Cr were calculated from the relative peak height measurement. We evaluated change of th intensity ratio NAA/Cr between before and after surgery, to simplify quantification acro patients, because observed decreases in the ratio of NAA/Cr can be interpreted in terms o neuronal or axonal damage.

• Journal of Korean Neurosurgical Society
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• v.37 no.2
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• pp.124-128
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• 2005

Objective: Congenital bilateral perisylvian syndrome(CBPS) has been defined as a characteristic malformative perisylvian polymicrogyria(PMG) in patients with clinical symptoms of pseudobulbar palsy and epileptic seizures. For the present study, we investigate clinicopathologic features of CBPS associated with timing of lesion formation. Methods: Clinicopathologic features of CBPS from 6 patients with surgical resection of the cerebral lesions due to medically intractable seizures were studied. Results: Seizure onset ranged from 1 to 10years (average 6.7years) of age, and average duration of seizure was 23years. All had complex partial seizures, and two patients had additional tonic clonic seizures. Magnetic resonance (MR) images showed polymicrogyria, atropic gyri with gliosis. In the histopathologic examination, the cortical lesions revealed features of ulegyria; atrophic and sclerotic gyri, laminar loss of neurons, extensive lobular gliosis throughout the gray and white matter, neuronoglial nodule formation, and many amyloid bodies. Unlayered or four-layered PMG was not identified. Conclusion: Above data suggest that CBPS might be caused by ulegyria resulting from developmental cortical defect during early fetal stage or acquired hypoxic/ischemic injury in prenatal or postnatal life.

• Clinical and Experimental Pediatrics
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• v.54 no.6
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• pp.241-245
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• 2011

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that results from mutations in the TSC1 or TSC2 genes, and is associated with hamartomas in several organs, including subependymal giant cell tumors. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. The TSC1- and TSC2-encoded proteins modulate cell function via the mammalian target of rapamycin (mTOR) signaling cascade, and are key factors in the regulation of cell growth and proliferation. The mTOR pathway provides an intersection for an intricate network of protein cascades that respond to cellular nutrition, energy levels, and growth factor stimulation. In the brain, TSC1 and TSC2 have been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation. The mTOR pathway represents a logical candidate for drug targeting, because mTOR regulates multiple cellular functions that may contribute to epileptogenesis, including protein synthesis, cell growth and proliferation, and synaptic plasticity. Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients.

• Journal of Korean Neurosurgical Society
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• v.62 no.3
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• pp.265-271
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• 2019

The expansion and folding of the cerebral cortex occur during brain development and are critical factors that influence cognitive ability and sensorimotor skills. The disruption of cortical growth and folding may cause neurological disorders, resulting in severe intellectual disability and intractable epilepsy in humans. Therefore, understanding the mechanism that regulates cortical growth and folding will be crucial in deciphering the key steps of brain development and finding new therapeutic targets for the congenital anomalies of the cerebral cortex. This review will start with a brief introduction describing the anatomy of the brain cortex, followed by a description of our understanding of the proliferation, differentiation, and migration of neural progenitors and important genes and molecules that are involved in these processes. Finally, various types of disorders that develop due to malformation of the cerebral cortex will be discussed.

• Journal of Interdisciplinary Genomics
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• v.3 no.1
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• pp.13-20
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• 2021

Developmental and epileptic encephalopathies are the most devastating early-onset epilepsies, characterized by early-onset seizures that are often intractable, electroencephalographic abnormalities, developmental delay or regression, and various comorbidities. A large number of underlying genetic variants of developmental and epileptic encephalopathies have been identified over the past few decades. However, the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. This review explores the genetic basis of developmental and epileptic encephalopathies that start within the first year of life, including Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms, and Dravet syndrome. The purpose of this review is to give an overview and encourage the clinicians to start considering genetic testing as an important investigation along with electroencephalogram for better understanding and management of developmental and epileptic encephalopathies.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.1-10
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• 2017

Purpose: This study aimed to investigate the perception and emotional experiences in rare and intractable diseases for caregivers of pediatric patients with mitochondrial diseases in order to provide therapeutic interventions for patients, caregivers, and families. Methods: A total of 83 caregivers of pediatric patients with mitochondrial diseases were recruited from the pediatric mitochondrial disease clinics of the Gangnam Severance Hospital in South Korea. Participants completed the survey about their perception of mitochondrial disease and emotional experiences after the diagnosis, and these clinical data were analyzed accordingly. Results: Surveys from a total of 83 caregivers of patients were analyzed, and the patients' age ranged from 6 to 12 years (33%), followed by ages 1 to 6 years (30%). Children with mitochondrial diseases were between 0 and 0.5 years of age at the time of first symptom onset (43%), and the duration of illness lasted more than 10 years in most cases (42%). Prior to diagnosis of mitochondrial diseases, the amount of awareness the caregivers had was 'Not at all' for both rare and intractable diseases and mitochondrial diseases in 44 cases and 68 cases, respectively. For the caregivers' emotional experiences, the most common initial responses were 'Discouraged/despair', 'Helpless/lethargic', and 'Disconcerted'. 'Anxious', 'Committed to treatment', and 'Responsibility as family members' were the most common emotional responses from the caregivers, followed by 'Disconcerted' and 'Helpless/lethargic'. Conclusion: It is important to consider the level of perception and emotional experiences of caregivers and patients with rare and intractable mitochondrial diseases for planning treatment programs.

• The Korean Journal of Nuclear Medicine
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• v.26 no.2
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• pp.244-250
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• 1992

Both interictal and ictal $^{99m}Tc-HMPAO$ brain SPECT were performed in 22 patients with medically intractable epilepsy. Localization of epileptic foci in our patients was made by combined results of EEG and other tests, including Wada test, magnetic resonance imaging, and neuropsychometric test. Among them, ictal $^{99m}Tc-HMPAO$ SPECT, localized epilptic foci in 20 of 22 patients and provided evidence of epileptic focus in 12 patients by demonstrating maximally increased regional cerebral perfusion (rCP) in epileptic foci during the ictal study with decreased rCP in interictal study. Ictal $^{99m}Tc-HMPAO$ SPECT was particularly useful for investigating epileptic foci, and when correlated with simultaneously recorded ictal EEG, provided further insight for localizing epileptic foci. Conclusively, $^{99m}Tc-HMPAO$ SPECT is. a useful, noninvasive method of localizing epileptic activity which may be particularly important for presurgical investigations, especially in those patients without large morphological lesions.

• Journal of Korean Neurosurgical Society
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• v.40 no.5
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• pp.323-329
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• 2006

Objective : This study was designed to analyze surgical strategies for patients with intractable supplementary sensorimotor area[SSMA] seizures. Methods : Seventeen patients who had surgical treatment were reviewed retrospectively. Preoperatively, phase I [non-invasive] and phase II [invasive] evaluation methods for epilepsy surgery were done. Seizure outcome was assessed with Engel's classification. The mean follow-up period was 27.2 months [from 12 months to 54 months]. Results : An MRI identified structural abnormality in eight patients and 3D-surface rendering revealed abnormal gyration in three. PET, SPECT, and surface EEG could not delineate the epileptogenic zone. Video-EEG monitoring with a subdural grid or depth electrodes verified the epileptogenic zone in all patients. Surgical procedures consisted of a resection of the SSMA and simultaneous callosotomy in two patients, a resection of the SSMA extending to the adjacent area in seven, a resection of a different area without a SSMA resection in seven, and a callosotomy in one. Seizure outcomes were class I in 11 [65%]. class II in five [29%], class III in one [6%]. Conclusion : In patients with intractable SSMA seizure, surgery was an excellent treatment modality. Precise delineation of the epileptogenic zone based on multimodal diagnostic methods can provide good surgical outcomes without neurological complications.

• Journal of Korean Neurosurgical Society
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• v.29 no.12
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• pp.1650-1656
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• 2000

Objective : Little consensus exists concerning which temporal lobe structures need to be resected or how much resection should be done during hippocampal resection. The purpose of this study is to identify whether the extent of hippocampal resection influences seizure after anterior temporal lobectomy. Materials and Methods : The extent of hippocampal resection was assessed in 96 patients who underwent temporal lobectomy for medically intractable complex partial seizures originating from a unilateral seizure focus in the anteromesial temporal lobe. Patients who had structural lesion were excluded from the study. Postoperative magnetic resonance imaging in the coronal and saggital planes were used to quantify the extent of the hippocampal and lateral cortical resection. The patients were divided into two groups. Patients who underwent hippocampal resection to the level of the cerebral peduncle were included in the partial resection group, and those who had resection to the level of the colliculus were assigned to total resection group. Seizure outcomes were defined according to the Engel classification and compared between the two groups. Neuropsychologic outcomes in the selected cases were reviewed. Results : The over-all seizure-free outcome(Engel classification 1) was accomplished in 75%(72/96) of the patients (mean duration of follow-up, 36.8 months). The total hippocampectomy group had a statistically superior seizure outcome than the partial hippocampectomy group(87.3% versus 58.5% seizure-free, p-value=0.001). Also, younger patients had a more favorable outcome. Other variables such as laterality, the extent of lateral cortical resection, age at onset and gender were not significant. The pre- and postoperative memory functions were evaluated in 24 patients. A worse postoperative memory outcome was associated with partial hippocampectomy. However this was not acceptable due to a former bias. Conclusion : The result of this study conforms that aggressive hippocampectomy resulted in a better seizure outcome.

• Clinical and Experimental Pediatrics
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• v.60 no.12
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• pp.408-412
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• 2017

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on the genotype. We report a novel mutation in the ELAC2 gene (c.95C>G [p.Pro32Arg], het), in an infant with COXPD-17 who presented with encephalopathy including central apnea and intractable epilepsy, and growth and developmental retardation. During hospitalization, consistently elevated serum lactic acid levels were noted, indicative of mitochondrial dysfunction. The patient suddenly died of shock of unknown cause at 5 months of age. This is the first case report of COXPD-17 in Korea and was diagnosed based on clinical characteristics and genetic analysis.