• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.197-204
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• 2018

Purpose: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (${\geq}6$ months of age) seizures. Results: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. Conclusion: There is no significant difference in epilepsy-related variables when patients are divided based on a cut-off age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the late-onset group.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.32 no.4
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• pp.137-143
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• 2021

Objectives: Despite the growing concern regarding the adverse effects related to problematic smartphone use (PSU), little is known about underlying morphologic changes in the brain. The brainstem is a deep brain structure that consists of several important nuclei associated with emotions, sensations, and motor functions. In this study, we sought to examine the difference in the volume of brainstem substructures among adolescents with and without PSU. Methods: A total of 87 Korean adolescents participated in this study. The PSU group (n=20, age=16.2±1.1, female:male=12:8) was designated if participants reported a total Smartphone Addiction Proneness Scale (SAPS) score of ≥42, whereas the remaining participants were assigned to the control group (n=67, age=15.3±1.7, female:male=19:48). High-resolution T1 magnetic resonance imaging was performed, and the volume of each of the four brainstem substructures [midbrain, pons, medulla, and superior cerebellar peduncle (SCP)] was measured. Analysis of covariance was conducted to reveal group differences after adjusting for effects of age, gender, whole brainstem volume, depressive symptoms, and impulsivity. Results: The PSU group showed a significantly smaller volume of the SCP than the control group (F=8.273, p=0.005). The volume of the SCP and the SAPS score were negatively correlated (Pearson's r=-0.218, p=0.047). Conclusion: The present study is the first to reveal an altered volume of the brainstem substructure among adolescents with PSU. This finding suggests that the altered white matter structure in the brainstem could be one of the neurobiological mechanisms underlying behavioral changes in PSU.

• Journal of the Korean Society of Radiology
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• v.18 no.2
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• pp.73-81
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• 2024

This study compared the cortical thickness of patients with mood disorders and a control group to assess structural abnormalities. A retrospective study was conducted from September 2020 to August 2022 at the Department of Psychiatry, P Hospital in Yangsan, Gyeongsangnam-do. The study included 44 individuals diagnosed with mood disorders and 59 healthy individuals without any pathological lesions. The 3D-T1 MPRAGE images obtained from magnetic resonance imaging examinations were utilized, and FreeSurfer software was employed to measure cortical thickness. Statistical analysis involved independent samples t-tests to measure the differences in means between the two groups, and Cohen's d test was used to compare the effect sizes of the differences. Furthermore, the correlation between the measured average cortical thickness and Positive and Negative Syndrome Scale scores was analyzed. The research results revealed that patients with mood disorders exhibited decreased cortical thickness compared to the normal control group in both superior frontal regions, both rostral middle frontal regions, both caudal middle frontal regions, both pars opercularis, pars orbitals, pars triangularis regions, both superior temporal regions, both inferior temporal regions, both lateral orbitofrontal regions, both medial orbitofrontal regions, both fusiform regions, both posterior cingulate regions, both isthmus cingulate regions, both superior parietal regions, both inferior parietal regions, both supramarginal regions, left postcentral region, right bank of the superior temporal sulcus region, right middle temporal region, right rostral anterior cingulate region, and right insula region. Among them, regions that showed differences with effect sizes of 0.8 or higher were left fusiform (d=0.82), pars opercularis (d=0.94), superior frontal (d=0.88), right lateral orbitofrontal (d=0.85), and pars orbitalis (d=0.89). Additionally, there was a weak negative correlation between PANSS scores and average cortical thickness in both the left hemisphere (r=-0.234) and right hemisphere (r=-0.230). These findings are expected to be helpful in identifying areas of cortical thickness reduction in patients with mood disorders compared to healthy individuals and understanding the relationship between symptom severity and cortical thickness changes.

• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.63-67
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• 2012

A 4-year-old girl with Panayiotopoulos syndrome presented with a history of 4 prolonged autonomic seizures. The clinical features of her seizures included, in order of occurrence, blank staring, pallor, vomiting, hemi-clonic movement on the right side, and unresponsiveness. A brain magnetic resonance imaging (MRI) showed a slightly high $T_2$ signal in the left hippocampus. Interictal electoencephalogram revealed spikes in the occipital area of the left hemisphere. We analyzed the current-source distribution of the spikes to examine the relationship between the current source and the high $T_2$ signal. The current source of the occipital spikes was not only distributed in the occipital area of both cerebral hemispheres, but also extended to the posterior temporal area of the left hemisphere. These findings suggest that the left temporal lobe may be one of the hyperexcitable areas and form part of the epileptogenic area in this patient. We hypothesized that the high $T_2$ signal in the left hippocampus of our patient may not have been an incidental lesion, but instead may be related to the underlying electroclinical diagnosis of Panayiotopoulos syndrome, and particularly seizure. This notion is important because an abnormal $T_2$ signal in the hippocampus may represent an acute stage of hippocampal injury, although there is no previous report of hippocampal pathology in Panayiotopoulos syndrome. Therefore, long-term observation and serial follow-up MRIs may be needed to confirm the clinical significance of the $T_2$ signal change in the hippocampus of this patient.

• Journal of the Korean Child Neurology Society
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• v.25 no.3
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• pp.200-203
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• 2017

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the ${\beta}-III$ spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.

• Journal of the Korean Society of Radiology
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• v.15 no.7
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• pp.999-1005
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• 2021

The object of this research is CS, which increases resolution while shortening inspection time, is applied to MRA to compare the quality of images for SENSE and CS techniques and to evaluate SNR and CNR to find out the optimal techniques and to provide them as clinical basic data based on this information. Data were analyzed on 32 patients who performed TOF MRA tests at a university hospital in Chung cheong-do (15 males, 17 females), ICA stenosis:10, M1 Aneurysm:10, and average age 53 ± 4.15). In the inspection, the inspection equipment was Ingenia CX 3.0T, Archieva 3.0T, and 32 channel head coil and 3D gradient echo as a method for equipment data. SNR and CNR of each image were measured by quantitative analysis, and the quality of the image was evaluated by dividing the observer's observation into 5 grades for qualitative evaluation. Imaging evaluation is described as being significant when the p-value is 0.05 or less when the paired T-test and Wilcoxon test are performed. Quantitative analysis of SNR and CNR in TOF MRA images Compared to the SENSE method, the CS method is a method measurement method (p <0.05). As an observer's evaluation, the sharpness of blood vessels: CS (4.45 ± 0.41), overall image quality: CS (4.77 ± 0.18), background suppression of images: CS (4.57 ± 0.18) all resulted in high CS technique (p = 0.000). In conclusion, the Compressed SENSE TOF MRA technique shows superior results when comparing and evaluating the SENSE and Compressed SENSE techniques in increased flow rate magnetic resonance angiography. The results are thought to be the clinical basis material in the 3D TOF MRA examination for brain disease.

• Journal of Physiology & Pathology in Korean Medicine
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• v.16 no.4
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• pp.724-728
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• 2002

Angiotensin-converting enzyme (ACE) gene polymorphism, which consists of presence (insertion, I) or absence (deletion, D) of a 250-bp fragment, is associated with ischemic heart disease, renovascular disease, systemic lupus erythematosus. Subjects with the DD genotype have higher levels of circulating ACE than subjects with the II genotype and show an increased tendency towards vascular wall thickness and contribute to the development of vascular disease. But the association between I/D polymorphism of the ACE gene and cerebrovascular disease is still controversial. The aim of this study was to determine whether the DNA polymorphism of the ACE are associated with cerebrovascular disease in Korean population. The study group comprised 377 Korean patients admitted to Kyunghee Oriental Medical Center in the year of 2000 for the treatment of brain infarction or brain hemorrhage. Magnetic resonance imaging(MRI) was performed for each patient to determine the stroke phenotype, infarction or hemorrhage. The 183 subjects without evidence of brain infarction or brain hemorrhage were selected from the some ethnical population(control group). Venous blood samples were drawn from each subject for the extraction of DNA. Genotypes of ACE were determined by polymerase chain reaction amplification of the genomic DNA. Case and control genotype frequencies were compared by chi-square testing. Both the patients and the controls were classified respectively into 4 groups: age less than forty years, age forty one to fifty, age fifty one to sixty, age greater than sixty years. There were no significant differences in the distributions of ACE genotypes among the patients with infarction, with hemorrhage and controls (Infarction: D/D 15.8%, I/D 46.7%, I/I 37.5%, Hemorrhage: D/D 15.1%, I/D 46.5%, I/I 38.4%, Control: D/D 18.6%, I/D 50.3%, I/I 31.2%). There was a significant difference in the distribution of ACE genotypes between the age greater than sixty year subgroup of patient with brain hemorrhage and the control (Hemorrhage: D/D 0%, I/D 55.6%, I/I 44.4%, Control: D/D 13.0%, I/D 63.0%, I/I 23.9%; Pearson Chi-Square value 5.956, P<0.05). Furthermore, the frequency of the ACE D/D type declined with increasing age both in the patient and control group (Patient group: age < 50 D/D 21.5%, age > 50 D/D 14.42%; Control group: age < 50 D/D 21.0%, age > 50 D/D 14.2%). In conclusion there is no clear association between ACE polymorphism and cerebrovascular disease in Korean population. Although, there was a tendency for the frequency of the ACE D/D type declined with increasing age in both patients and controls.

• Sleep Medicine and Psychophysiology
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• v.5 no.1
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• pp.54-70
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• 1998

Objectives : The purpose of this study is to evaluate the role of structural and functional changes of the brain in the pathophysiology of schizophrenia. Methods : The authors measured the regions of interest on the magnetic resonance imaging of the brain in 20 patients with paranoid schizophrenia(15 men and 5 women) and 23 control subjects(15 men and 8 women). We also assessed the neurocognitive functions with the Wisconsin Card Sorting Test, the Benton Neuropsychological Assessment, and the Weschler IQ test-Korean version, soft neurologic signs, and psychiatric symptoms in the patient group. Results : In the patient group, all ventricles and basal ganglia including caudate nucleus and globus pallidus were significantly enlarged. Although there were no significant differences between the two groups in the values of right frontal lobe and left temporal lobe, there was a tendency of decrease in the values of right frontal lobe and left temporal lobe. There were significant positive correlations between the values of ventricles and the frequency of previous hospitalization. However, there were no significant correlations between other values of regions of interest and clinical data. The value of the right frontal lobe was significantly correlated with the score of soft neurologic signs, which is suggestive of the neurodevelopmental abnormalities. There were significant correlations between the value of frontal lobe and the scores of the various subscales of Benton Neuropsychiatric Inventory. In contrast, the value of left amygdala and putamen showed significant correlation with the score of verbal IQ on the Weschler IQ test. Structural changes of the temporal lobe areas were related with the positive and general symptom scores on PANSS, while those of the basal ganglia were related with the negative symptom scores. Conclusions : These results suggest that the structural changes of the brain in the patients with schizophrenia show the dual process, which is suggestive that the enlarged ventricle show the neurodegenerative process, while enlarged basal ganglia, and shrinked right frontal and left temporal lobe show the neurodevelopmental abnormalities. Among these changes, structural changes of the frontal lobe related with various neuropsychological deficits, while those of left temporal lobe related with language abnormality. Relative to the relation between structural changes and psychiatric symptoms, structural changes of the temporal lobe areas were related with the positive and general symptoms, while those of the basal ganglia were related with the negative symptoms.

• Journal of radiological science and technology
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• v.32 no.1
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• pp.95-99
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• 2009

The purpose of this research is to seek SPAIR's reversal time (TI) which satisfies two conditions ; maintaining the suppression ability of fat tissue and simultaneously minimizing the inhomogeneity of fat tissue in T2 high-speed spin echo 3.0T magnetic resonance image (MRI) of the brain, and to compare SPAIR with STIR which is fat-suppression technique. The reversal times (TI) of SPAIR protocol are set to 1/2, 1/3, 1/6 and 1/12 of SPAIR TR (420 msec), namely 210 msec (8 people), 140 msec (26 people), 70 msec (26 people) and 35 msec (18 people) and STIR TI is set with 250 msec (26 people). With these parameter sets, we acquired the axis direction 104 images of the brain. In ROI ($50\;mm^2$) of output image, signal intensities of the fatty tissue, the muscular tissue, and the background were measured and the CNRs of fatty tissue and the muscular tissue were calculated. The inhomogeneity of the fatty tissue is SD/mean, where SD is the standard deviation and 'mean' is a average fatty tissue signal. Consequently, SPAIR TI is determined on either 1/3 or 1/6 of TR (420 ms) ; 140 ms or 70 ms. Because the difference of statistics in fat-suppression ability and inhomogeneity of fatty tissue is very small (p < 0.001), Selecting 140 ms seems to be better choice for the image quality. Meanwhile, Comparing SPAIR (TI : 140 ms) with STIR, the fat-suppression is not able to be considered statistically (p < 0.252), but the image quality is able to be considered statistically (p < 0.01). In conclusion, SPAIR is better than STIR in the image quality.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1232-1238
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• 2005

Purpose : Though more than 15 years have passed after introduction of Lorenzo's oil therapy in X-linked adrenoleukodystrophy(ALD), its efficacy is still fully not known. In patients who already have neurologic symptoms, most reports indicate that the neurologic disability continues to increase. We evaluated its efficacy in X-linked ALD patients. Methods : Four patients who were treated with Lorenzo's oil for at least 12 months were enrolled from 1996 to 2003. During treatment, changes of neurologic symptoms, brain magnetic resonance imaging(MRI) findings, and serum saturated very long-chain fatty acid(C26:0) were assessed. Results : Two patients with childhood cerebral ALD had progression of neurologic symptoms and MRI lesions during treatment. One asymptomatic patient developed childhood cerebral ALD after six year treatment of Lorenzo's oil. One "Addison only" patient remained neurologically intact after three years. During Lorenzo's oil therapy, serum C26:0 levels which had increased at diagnosis decreased in all four patients. Conclusion : Treatment with Lorenzo's oil did not prevent disease progression in childhood cerebral ALD patients who were already symptomatic. Long term follow up will be needed in asymptomatic ALD including "Addison only" to reveal the efficacy of Lorenzo's oil.