• Journal of Korean Neurosurgical Society
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• v.57 no.6
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• pp.401-407
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• 2015

The nonprogressive unilateral intracranial arteriopathy known as transient (focal) cerebral arteriopathy is not a well-recognized arteriopathy among practitioners of Korea and Japan, although it cannot be easily differentiated from early moyamoya disease. This review summarizes the nomenclature, pathophysiology, diagnostic evaluation, clinico-radiological features, and management of nonprogressive (reversible or stable) unilateral arteriopathy based on the relevant literature and our own experiences. Nonprogressive unilateral arteriopathy should be strongly suspected in children presenting with basal ganglia infarction and arterial beading. The early identification of patients likely to have nonprogressive or progressive arteriopathy would ensure proper management and guide further research for secondary stroke prevention.

• Journal of the Korean Society of Radiology
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• v.84 no.4
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• pp.855-865
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• 2023

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small artery vasculopathy caused by mutations in the NOTCH3 gene on chromosome 19. Jeju Island has the highest reported prevalence of CADASIL patients in the world. Even though most studies on the neuroimaging characteristics of CADASIL have focused on Western populations, there are notable differences in Korean CADASIL patients compared to those in Western countries, which may impact their clinical manifestations and prognosis. Herein, this pictorial essay presents the neuroimaging patterns of CADASIL in patients in Korea, with an emphasis on the differences observed from previous reports based on a Western patient population.

• Journal of Medicine and Life Science
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• v.15 no.2
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• pp.89-94
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• 2018

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is inherited microangiopathy caused by mutations in the Notch3 gene. Typical findings from brain magnetic resonance imaging (MRI) include subcortical lacunes, extensive white matter change and cerebral microbleeds(CMBs). CMBs are indicative of bleeding-prone microangiopathy. Despite some studies investigating the association between lacunes and cognitive dysfunction in CADASIL, few studies have examined the relationship between cognitive dysfunction and CMBs. We sought to assess whether CMBs are associated with cognitive dysfunction in CADASIL. This study enrolled 83 consecutive patients with CADASIL between April 2012 and January 2014. Their degree of cognitive dysfunction was assessed by the Korean version of the CERAD neuropsychological assessment battery, digit span test, and the Stroop test. A 3.0-T MRI was used to obtain T1-weighted, fluid-attenuated inversion recovery, and susceptibility weighted images. In multiple logistic regression analysis, the grade of CMBs influenced tests of memory dysfunction (p=0.003). Three or more lacunes correlated with dysfunction in the executive domain (p=0.013) and attention domain (p=0.005). White matter hyperintensity (WMH) was an independent predictor of executive dysfunction (p=0.001). These findings suggest that in addition to lacunes, CMBs and WMHs may be useful imaging markers to associated with cognitive dysfunction in CADASIL.

• Clinical and Experimental Pediatrics
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• v.60 no.2
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• pp.38-44
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• 2017

Purpose: Kawasaki disease (KD) is an immune-related multisystemic vasculitis that occurs in children, especially ensuing from a coronary artery abnormality. Sodium level is known to be related to vascular injury, which could affect the progress of KD. The purpose of this study was to determine the serum sodium levels that could predict the occurrence of cardiac and coronary artery events in KD. Methods: We conducted a retrospective review of medical records for 104 patients with KD from January 2015 to December 2015. Patients with serum Na levels of <135 mEq/L at the time of initial diagnosis were assigned to the hyponatremia group. Laboratory findings and echocardiographic data were analyzed for various aspects. Results: Among the 104 patients with KD, 91 were included in the study, of whom 48 (52.7%) had hyponatremia. The degree of fever, white blood cell count, percentage of neutrophils, percentage of lymphocytes, total bilirubin level, brain natriuretic peptide level, erythrocyte sedimentation rate, and C-reactive protein level were higher in the patients with hyponatremia. They also demonstrated a trend of larger coronary artery diameters based on Z scores. Conclusion: The severity of vascular inflammation in acute KD with hyponatremia might worsen the prognosis of coronary vasculature. Although no statistically significant correlation was found between the initial serum sodium levels and coronary arteriopathy in the patients with KD in this study, a long-term follow-up study with a larger number of enrolled patients should be designed in the future to elucidate the relationship between serum sodium level and coronary arteriopathy in patients with KD.

• Journal of Korean Neurosurgical Society
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• v.65 no.2
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• pp.245-254
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• 2022

Objective : The etiology of angiographically occult spontaneous subarachnoid hemorrhage (AOsSAH) is unclear. Three-dimensional (3D) high-resolution vessel wall magnetic resonance imaging (HVM) might be useful in detecting the hidden arterial wall angiopathy in patients with AOsSAH. We aimed to demonstrate the feasibility of HVM for detecting the arterial cause of AOsSAH. Methods : Patients, who were diagnosed with AOsSAH in the first evaluations and underwent HVM, were enrolled. Their clinical and radiologic data were retrospectively reviewed. Especially, focal enhancement of arterial wall on HVM and repetitive catheterized angiograms were precisely compared. Results : Among 251 patients with spontaneous SAH, 22 patients were diagnosed with AOsSAH in the first evaluations (8.76%). After excluding three patients who did not undergo 3D-HVM, 19 patients were enrolled and classified as convexal (n=2) or perimesencephalic (n=4), and diffuse (n=13) groups. In convexal and perimesencephalic groups, no focal enhancement on HVM and no positive findings on repetitive angiography were noted. In diffuse group, 10 patients showed focal enhancement of arterial wall on HVM (10/13, 76.9%). Repeated angiography with 3D reconstruction revealed four patients of angiographically positive causative arteriopathy and possible lesion in one case in the concordant location of intramural enhancement on 3D-HVM (5/10, 50%). Three of them were treated with endovascular stent insertion. All patients, except one, recovered with good clinical outcome (3-month modified Rankin score, 0 and 1). Conclusion : 3D-HVM was useful in detecting hidden true arteriopathy in AOsSAH. It may provide new insights into the etiologic investigation of AOsSAH by proving information about the arterial wall status.

• Journal of Korean Neurosurgical Society
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• v.57 no.6
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• pp.415-421
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• 2015

Moyamoya disease (MMD) is an arteriopathy of the intracranial circulation predominantly affecting the branches of the internal carotid arteries. Heterogeneity in presentation, progression and response to therapy has prompted intense study to improve the diagnosis and prognosis of this disease. Recent progress in the development of moyamoya-related biomarkers has stimulated marked interest in this field. Biomarkers can be defined as biologically derived agents-such as specific molecules or unique patterns on imaging-that can identify the presence of disease or help to predict its course. This article reviews the current categories of biomarkers relevant to MMD-including proteins, cells and genes-along with potential limitations and applications for their use.

• Journal of Medicine and Life Science
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• v.16 no.3
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• pp.55-59
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• 2019

Cerebral vessels are functionally and structurally specialized to provide adequate blood flow to brain which shows high metabolic rates. Cerebral hemorrhage or ischemic infarction due to cerebrovascular injury or occlusion can cause the immediate brain damage, and if not treated rapidly, can lead to serious or permanent brain damages, and sometimes life-threatening. Unlike these popular cerebrovascular diseases, there are diseases caused by genetic problems. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of them. CADASIL does not show the high incidence, but it is considered to be significantly affected by regional obstructiveness such as islands and therefore, to be an important genetic disease in Jeju. This paper aims to summarize the possibility of animal model research that can provide preclinical data for CADASIL disease research and to evaluate its applicability in future research plans.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.38-41
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• 2022

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.48 no.3
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• pp.178-181
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• 2022

Williams-Beuren syndrome (WS) is a rare genetic disorder that results from microdeletion at chromosome 7, which harbors the elastin gene. Clinical findings include arteriopathy, aortic stenosis, hypertension, and laxities and contractures in different joints throughout the body. While many components of the temporomandibular joint (TMJ) normally contain elastin, there are few reports on TMJ manifestations of WS. This study reports a TMJ ankylosis case in a WS patient and shares insight on a possible link between development of TMJ ankylosis and elastin deficiency in WS patients. A WS patient presented with bilateral TMJ ankylosis and was successfully treated with TMJ gap arthroplasty. Hypermobility of TMJ and lack of elastin in retrodiscal tissue can induce anterior disc displacement without reduction. Due to lack of elastin, which has a significant role in the compensatory and reparatory mechanism of TMJ, WS patients might be prone to TMJ ankylosis.

• Journal of Chest Surgery
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• v.34 no.11
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• pp.870-874
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• 2001

Takayasu arteritis is a chronic non-specific inflammatory arteriopathy that involves primarily the first branches of aortic arch but may also affect the aorta and any of its primary branches. A characteristic trait of the disease is that most of the patients are young females of mainly Asian and South American origin. Recently, we experienced a rare case of Takayasu arteritis which showed a cord-like atresia of abdominal aorta just below renal arteries in 52-year-old woman. We performed a side to side bypass graft from descending thoracic aorta to abdominal aorta just above the aortic bifurcation with a 18mm PTFE(polytetrafluoroethylene) vascular graft. The postoperative course was uneventful. .