• Investigative Magnetic Resonance Imaging
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• v.22 no.3
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• pp.200-203
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• 2018

Metronidazole is an antimicrobial agent widely used for the treatment of anaerobic infection or antibiotics-associated diarrhea. It is generally thought to be safe, but can induce reversible toxic encephalopathy in the case of excessive or cumulative over-dose. Metronidazole-induced encephalopathy generally demonstrates the characteristic features of typical lesion location and bilaterality on magnetic resonance imaging (MRI). We report a case of metronidazole-induced encephalopathy with the involvement of asymmetric white matter. To our knowledge, only a few cases have been reported with respect to white matter lesion characteristics on MRI with diffusion-weighted images.

• Investigative Magnetic Resonance Imaging
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• v.18 no.4
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• pp.357-361
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• 2014

Purpose : In a previous report, it took several days for white matter lesions to regress in hypoglycemic encephalopathy. We present a case of rapid diffusion-weighted image (DWI) changes in hypoglycemic encephalopathy. Case Report: A 58-year-old male patient was found semi-comatous with the only abnormality in his laboratory tests showing hypoglycemia (44 mg/dL). After rapid correction of glucose level, immediate brain DWI showed bilateral subcortical white matter lesions. After about 5 hours, follow-up DWI showed resolved subcortical white matter lesions, with newly-appeared bilateral fronto-temporo-parietal cortical lesions. Conclusion: Both white matter and cortex involvement in hypoglycemic encephalopathy has been shown in several reports, but rapid regression of white matter changes in hypoglycemic encephalopathy has been rarely reported. It is important to know that MR imaging changes in hypoglycemic encephalopathy can be made as quick as just a few-hour-long.

• Investigative Magnetic Resonance Imaging
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• v.21 no.2
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• pp.106-108
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• 2017

The perfusion change in acute symptomatic hypoglycemic encephalopathy (ASHE) is not well known. We present the perfusion-weighted imaging of a patient with ASHE. The area of diffusion-weighted imaging abnormalities and adjacent normal-appearing white matter showed increased cerebral blood volume and flow, and shortening of time-to-peak.

• Investigative Magnetic Resonance Imaging
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• v.25 no.2
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• pp.101-108
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• 2021

Purpose: To identify characteristic magnetic resonance imaging (MRI) features to differentiate between Krabbe disease and metachromatic leukodystrophy (MLD) in young children. Materials and Methods: We collected all confirmed cases of Krabbe disease and MLD between October 2004 and September 2020 at Seoul National University Children's Hospital. Patients with initial MRI available were included. Their initial MRIs were retrospectively reviewed for the following: 1) presence of white matter signal abnormality involving the periventricular and deep white matter, subcortical white matter, internal capsule, brainstem, and cerebellum; 2) presence of volume decrease and signal alteration in the corpus callosum and thalamus; 3) presence of the tigroid sign; 4) presence of optic nerve hypertrophy; and 5) presence of enhancement or diffusion restriction. Results: Eleven children with Krabbe disease and 12 children with MLD were included in this study. There was no significant difference in age or symptoms at onset. Periventricular and deep white matter signal alterations sparing the subcortical white matter were present in almost all patients of the two groups. More patients with Krabbe disease had T2 hyperintensities in the internal capsule and brainstem than patients with MLDs. In contrast, more patients with MLD had T2 hyperintensities in the splenium and genu of the corpus callosum. No patient with Krabbe disease showed T2 hyperintensity in the corpus callosal genu. A decrease in volume in the corpus callosum and thalamus was more frequently observed in patients with Krabbe disease than in those with MLD. Other MRI findings including the tigroid sign and optic nerve hypertrophy were not significantly different between the two groups. Conclusion: Signal abnormalities in the internal capsule and brainstem, decreased thalamic volume, decreased splenial volume accompanied by signal changes, and absence of signal changes in the callosal genu portion were MRI findings suggestive of Krabbe disease rather than MLD based on initial MRI. Other MRI findings such as the tigroid sign could not help differentiate between these two diseases.

• Journal of the Korean Society of Radiology
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• v.81 no.6
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• pp.1412-1423
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• 2020

Purpose Some patients with neonatal seizures show diffuse, symmetric diffusion-restricted lesions in the cerebral white matter. The aim of this study was to describe clinical and imaging findings of patients with neonatal seizures who had diffuse, symmetric diffusion-restricted lesions without any structural or metabolic etiology. Materials and Methods A total of 56 neonates aged less than 1 week underwent brain magnetic resonance imaging (MRI) for evaluation of seizures from November 2008 to February 2017. After excluding 43 patients, 13 patients showed diffuse white matter abnormality on diffusion-weighted imaging. Initial and follow-up clinical and MRI findings were analyzed retrospectively. Results All 13 patients were born at full term. Among the ten patients who underwent a stool test for viruses, six were positive for rotavirus and one for astrovirus. MRI revealed diffuse, symmetric diffusion-restricted lesions distributed along the cerebral white matter, thalami, and midbrain variably. Conclusion Diffuse, symmetric diffusion-restricted lesions involving the cerebral white matter can be seen in patients with neonatal seizures without any structural or metabolic etiology. Rotavirus is commonly but not exclusively detected in these patients. Nevertheless, viral infection-associated encephalopathy should be considered for patients with characteristic clinical and MRI findings.

• Annals of Clinical Neurophysiology
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• v.9 no.2
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• pp.97-101
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• 2007

We report a 31-year-old man with cerebral adrenomyeloneuronopathy variant, who presented as progressive gait disturbance. He had spastic paraparesis, hyperreflexia without Babinski's sign and sensory symptom. No adrenal insufficiency was noted. Brain MRI showed extensive high signal intensities in bilateral temporal lobes and posterior periventricular white matter in T2 weighed imaging without cerebrospinal fluid abnormality. His nerve conduction study showed sensorimotor demyelinating polyneuropathy and the level of saturated very-long-chain fatty acids was high in his plasma, although neuropsychological test was normal.

• Investigative Magnetic Resonance Imaging
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• v.16 no.2
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• pp.115-123
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• 2012

Purpose : To evaluate white matter abnormalities on diffusion tensor imaging (DTI) in patients with mild Alzheimer disease (AD) and mild cognitive impairment (MCI), using tract-based spatial statistics (TBSS) and voxel-based morphometry (VBM). Materials and Methods: DTI was performed in 21 patients with mild AD, in 13 with MCI and in 16 old healthy subjects. A fractional anisotropy (FA) map was generated for each participant and processed for voxel-based comparisons among the three groups using TBSS. For comparison, DTI data was processed using the VBM method, also. Results: TBSS showed that FA was significantly lower in the AD than in the old healthy group in the bilateral anterior and right posterior corona radiata, the posterior thalamic radiation, the right superior longitudinal fasciculus, the body of the corpus callosum, and the right precuneus gyrus. VBM identified additional areas of reduced FA, including both uncinates, the left parahippocampal white matter, and the right cingulum. There were no significant differences in FA between the AD and MCI groups, or between the MCI and old healthy groups. Conclusion: TBSS showed multifocal abnormalities in white matter integrity in patients with AD compared with old healthy group. VBM could detect more white matter lesions than TBSS, but with increased artifacts.

• Proceedings of the Korean Society of Developmental Biology Conference
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• 2001.10a
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• pp.14-17
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• 2001

Positional clonging (map-based cloning) of mutations or genetic variations has been served as an invaluable tool to understand in-vivo functions of genes and to identify molecular components underlying phenotypes of interest. Mice homozygous for the cerebellar deficient folia (cdf) mutation are ataxic, with cerebellar hypoplasia and abnormal lobulation of the cerebellum. In the cdf mutant cerebellum approximately 40% of Purkinje cells are ectopically located within the white matter and the inner granule cell layer (IGL). To identify the cdf gene, a high-resolution genetic map for the cdf-gene-encompassing region was constructed using 1997 F2 mice generated from C3H/HeSnJ-cdf/cdf and CAST/Ei intercross. The cdf gene showed complete linkage disequilibrium with three tightly linked markers D6Mit208, D6Mit359, and D6Mit225. A contig using YAC, BAC, and P1 clones was constructed for the cdf critical region to identify the gene. A deletion in the cdf critical region on chromosome 6 that removes approximately 150 kb of DNA selection. cdf mutant mice with the transgenic copy of the identified gene restored the brain abnormalities of the mutant mice. The positional cloning of cdf gene provides a good example showing the identification of a gene could lead to finding a new component of important molecular pathways.

• Proceedings of the KSAR Conference
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• 2001.10a
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• pp.14-17
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• 2001

Positional cloning (map-based cloning) of mutations or genetic variations has been served as an invaluable tool to understand in-vivo functions of genes and to identify molecular components underlying phenotypes of interest. Mice homozygous for the cerebellar deficient folia (cdf) mutation are ataxic, with cerebellar hypoplasia and abnormal lobulation of the cerebellum. In the cdf mutant cerebellum approximately 40% of Purkinje cells are ectopically located within the white matter and the inner granule cell layer (IGL). To identify the cdf gene, a high-resolution genetic map for the cdf-gene-encompassing region was constructed using 1997 F2 mice generated from C3H/HeSnJ-cdf/cdf and CAST/Ei intercross. The cdf gene showed complete linkage disequilibrium with three tightly linked markers D6Mit208, D6Mit359, and D6Mit225. A contig using YAC, BAC, and P1 clones was constructed for the cdf critical region to identify the gene. A deletion in the cdf critical region on chromosome 6 that removes approximately 150kb of DNA was identified. A gene associated with this deletion was identified using cDNA selection. cdf mutant mice with the transgenic copy of the identified gene restored the brain abnormalities of the mutant mice. The positional cloning of cdf gene provides a good example showing the identification of a gene could lead to finding a new component of important molecular pathways.

• Clinical and Experimental Pediatrics
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• v.59 no.2
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• pp.91-95
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• 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.