• 대한자기공명의과학회:학술대회논문집
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• 대한자기공명의과학회 2001년도 제6차 학술대회 초록집
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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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• 제37권2호
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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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• 제54권6호
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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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• 제62권3호
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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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• 제3권1호
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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.

• 대한유전성대사질환학회지
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• 제17권1호
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• pp.1-10
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• 2017

목적: 소아기에 경험되는 미토콘드리아 질환은 희귀난치성 질환으로, 확진까지의 과정에서뿐 아니라 진단 및 진단 이후 과정에서 지속적으로 질병을 경험하는 환자와 보호자에게 모두 신체적 및 정신적인 어려움을 동반하게 된다. 본 연구에서는, 미토콘드리아 질환 소아환자의 보호자의 질환에 대한 인식을 조사하고, 확진이후 경험하게 되는 감정들에 대한 이해를 통해, 미토콘드리아 질환 환자와 보호자, 그 가족들에 대한 치료적 개입의 방향에 도움을 제시하고자 하였다. 방법: 연세의대 강남세브란스병원 소아청소년과 미토콘드리아 질환 클리닉에 내원한 83명 소아 환자의 보호자들에 대해서, 미토콘드리아 질환에 대한 인식 및 진단 이후 경험하게 되는 정서 관련 개발된 설문 조사를 시행하여 분석하였다. 환자들에 대한 미토콘드리아 질환 관련 임상 자료가 조사되었으며, 이와 관련한 분석이 이루어졌다. 결과: 총 83명의 환자들 보호자에 대한 설문 결과가 분석되었으며(남아 53명, 64%), 환자의 연령대는 6-12세가 27명(33%), 1-6세가 25명(30%) 순서였다. 미토콘드리아질환 관련 첫번째 증상 발병 연령은 0-0.5세가 전체의 43%(36명)를 차지하였고, 질병의 유병기간은 10년 이상으로 지속되는 경우가 가장 많았다(35명, 42%). 자녀가 미토콘드리아 질환으로 확진을 받기 이전에, 희귀난치성 질환에 대한 보호자의 인식정도는 '전혀 알지 못한다'가 총 83명중 44명으로 제일 높았고, 미토콘드리아 질환에 대한 보호자의 인식 정도도 '전혀 알지 못한다'가 총 83명중 68명으로 높았다. 자녀가 미토콘드리아 질환으로 확진을 받는 과정에서는 미토콘드리아 질환에 대한 보호자의 인식은 '별로알지 못한다,' '조금 안다'가 모두 높게 나타나, 확진을 받기 이전에 비해 질환에 대한 인식 정도가 높아진 것으로 나타났다. 미토콘드리아 질환 소아 환자의 보호자가 지각하는, 미토콘드리아 질환에 대한 가족들의 '인식' 정도는 대체적으로 평균 수준으로 나타난 반면, 보호자가 지각하는, 미토콘드리아 질환에 대한 가족 이외 주변 사람들의 '인식' 정도는 '전혀 알지 못한다'가 43명으로 가장 높게 선택되었다. 이와 더불어, 보호자의 인식 정도와 가족 이외 주변 사람들의 인식 정도는 대부분이 '별로 일치하지 않는다'로 보고되고 있어, 대부분의 인식이 일치하지 않는다는 의견이 보고되었다. 보호자의 자녀가 미토콘드리아 질환으로 확진 받았을 당시, 보호자가 가장 먼저 경험한 생각이나 감정으로 좌절/절망감, 막막함/무기력감, 당황스러움 등이 높게 보고되었다. 미토콘드리아 질환 진단 및 치료 과정에서 보호자의 감정으로 불안감, 치료 과정에 대한 의지, 가족 구성원으로서의 책임감이 가장 빈번하고 강하게 경험되었던 것으로 나타났고, 그 다음으로는 당황스러움과 막막함/무기력감이 보고되었다. 한편, 미토콘드리아 질환 진단 및 치료 과정에서 환자가 경험한 감정으로는 불안감이 가장 높게 보고되었으며, 치료 과정에 대한 의지, 당황스러움, 부정적인 스트레스가 보고되었다. 결론: 희귀난치성 질환인 미토콘드리아 질환은 질환에 대한 경험 이전에 보호자 및 가족들의 인식이 충분하지 못하고, 특히 가족 이외의 주변 사람들의 인식은 질환에 대한 확진 이후에도 별로 변화되지 못하여, 환자와 가족이 경험하는 정서적인 소외감이나 어려움이 높을 수 있을 것으로 여겨진다. 이와 관련하여, 질환에 대한 확진 이후 환자와 보호자가 경험하게 되는 부정적인 감정들은, 질병 자체에서 비롯되는 어려움과 더불어 질병에 대한 치료적 개입 제공에 어려운 요소로 작용할 수 있으므로 이에 대한 이해와 치료적 계획의 고려가 필요할 것으로 시사된다.

• 대한핵의학회지
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• 제26권2호
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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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• 제40권5호
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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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• 제29권12호
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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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• 제60권12호
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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.