• Investigative Magnetic Resonance Imaging
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• 제22권3호
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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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• 제18권4호
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• pp.357-361
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• 2014

목적: 이전의 증례 보고에서는 저혈당성 뇌병증 환자의 뇌백질의 변화가 퇴행하기까지 수 일이 소요되었다. 본 저자들은 저혈당성 뇌병증에서 확산강조영상의 빠른 변화를 경험하였다. 이에 문헌 고찰과 함께 보고자 한다. 증례 보고: 58세 남자 환자가 반혼수 상태로 발견되었으나 혈액 검사 상 저혈당 (44 mg/dL)이 나타난 것 외 특이 소견이 없었다. 혈당 수치를 빠르게 교정한 후 곧바로 촬영한 뇌 확산강조영상에서 양쪽 피질하 백질의 병변이 관찰되었다. 5시간 후 재시행한 확산강조영상에서 피질하 백질이 회복된 대신 양쪽 전방측두두정엽 피질의 병변이 새로이 발견되었다. 결론: 저혈당성 뇌병증 환자에서 뇌백질과 피질이 모두 이상소견을 보이는 증례 보고는 이전에도 다수 있었지만 이처럼 뇌백질 변화가 빠른 퇴행을 보이는 증례는 거의 보고된 바 없다. 저자들은 저혈당성 뇌병증에서 자기공명 영상의 변화가 빠르게는 수 시간 내로도 나타날 수 있다는 걸 알리고자 한다.

• Investigative Magnetic Resonance Imaging
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• 제21권2호
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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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• 제25권2호
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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.

• 대한영상의학회지
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• 제81권6호
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• pp.1412-1423
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• 2020

목적 본 연구는 신생아 경련 환자에서 구조적 이상이나 대사로 인한 원인이 없으면서, 확산강조영상에서 미만성 대뇌 백질의 이상을 보이는 경우의 임상적 소견과 영상 소견의 특징을 기술하고자 한다. 대상과 방법 2008년 11월에서 2017년 2월 사이에 경련에 대한 평가를 위해 56명의 생후 1주 미만의 신생아가 뇌 자기공명영상을 시행하였다. 이중 33명을 제외한 23명중, 13명에서 확산강조영상에서 미만성 대뇌 백질 이상을 보였다. 내원 시 임상 소견, 자기공명영상 소견, 추적검사 결과에 대해 후향적으로 분석하였다. 결과 확산제한을 보인 13명의 환아는 모두 만기 분만 환아였다. 대변 바이러스 검사를 시행한 10명 중 6명은 로타바이러스, 한 명은 아스트로 바이러스가 검출되었다. 확산 제한은 대뇌 백질, 시상, 중뇌에 걸쳐 다양하게 분포하였다. 결론 신생아 경련 환자에서 구조적 이상이나 대사로 인한 원인이 없으면서, 확산강조영상에서 미만성 대뇌 백질의 이상을 보이는 경우, 로타바이러스가 검출되는 경우가 흔히 있었다. 따라서 이러한 임상적, 영상의학적 소견을 보일 때, 바이러스 감염과 관련된 뇌증의 가능성을 고려할 필요가 있을 것으로 판단된다.

• Annals of Clinical Neurophysiology
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• 제9권2호
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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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• 제16권2호
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• pp.115-123
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• 2012

목적: Tract-based spatial statistics와 화소기반 형태분석 방법을 이용하여 경도의 알츠하이머병 환자와 경도인 지장애 환자에서 확산텐서영상을 이용하여 뇌 백질의 이상을 평가하고자 하였다. 대상과 방법: 21명의 경도의 알츠하이머병 환자와 13명의 경도인지장애 환자, 그리고 16명의 건강한 노인군을 대상으로 확산텐서영상을 시행하였다. 각 참가자마다 분할 비등방도를 구하여 Tract-based spatial statistics를 이용하여 세 그룹간의 비교를 하였다. Tract-based spatial statistics 방법과의 비교를 위하여, 화소기반 형태분석 방법을 이용한 분석도 함께 시행하였다. 결과: Tract-based spatial statistics 분석결과, 경도의 알츠하이머 환자에서 건강한 노인군보다 방사관의 양측 전각과 우측 후각, 후시상방사, 우측 상세로다발, 뇌량체부, 우측 쐐기전소엽이랑에서 분할 비등방도가 유의하게 감소하였다. 화소기반 형태분석에서는 양측 갈고리다발, 좌측 부해마회의 백질, 우측 대상다발에서 추가적으로 분할 비등 방도가 감소되어 있었다. 경도의 알츠하이머 환자군과 경도인지장애 환자군의 비교, 경도인지장애 환자군과 건강한 노인군의 비교연구에서는 분할 비등방도의 유의한 차이는 없었다. 결론: Tract-based spatial statistics 분석결과, 경도의 알츠하이머 환자군에서 건강한 노인군에 비해 뇌 백질의 분할 비등방도가 여러 곳에서 감소되어 있었다. 화소기반 형태분석방법은 tract-based spatial statistics보다 더 많은 곳에서 뇌 백질의 이상을 보였다. 그러나, 인공물 또한 더 많이 관찰되었다.

• 한국발생생물학회:학술대회논문집
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• 한국발생생물학회 2001년도 발생공학 국제심포지움 및 학술대회 발표자료집
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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.

• 한국동물번식학회:학술대회논문집
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• 한국동물번식학회 2001년도 발생공학 국제심포지움 및 학술대회 발표자료집
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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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• 제59권2호
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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.