소아뇌졸중의 보험의학적 고찰

안계훈,Ahn, Gye-Hoon 한국생명보험의학회 2010 保險醫學會誌 Vol.29 No.2

Moyamoya disease (MMD) is a progressive occlusive disease of the cerebral vasculature with particular involvement of the circle of Willis and the arteries that feed it. MMD is one of cerebrovacular accident,which is treated with sugical maeuver in pediatic neurosurgery. Moyamoya (ie, Japanese for "puff of smoke") characterizes the appearance on angiography of abnormal vascular collateral networks that develop adjacent to the stenotic vessels. The steno-occlusive areas are usually bilateral, but unilateral involvement does not exclude the diagnosis. The exact etiology of moyamoya disease is unknown. Some genetic predisposition is apparent because it is familial 10% of the time. The disease may be hereditary and multifactorial. It may occur by itself in a previously healthy individual. However, many disease states have been reported in association with moyamoya disease, including the following: 1) Immunological - Graves disease/thyrotoxicosis 2) Infections - Leptospirosis and tuberculosis 3) Hematologic disorders - Aplastic anemia, Fanconi anemia, sickle cell anemia, and lupus 4) Congenital syndromes - Apert syndrome, Down syndrome, Marfan syndrome, tuberous sclerosis, Turner syndrome, von Recklinghausen disease, and Hirschsprung disease 5) Vascular diseases - Atherosclerotic disease, coarctation of the aorta and fibromuscular dysplasia, 6)cranial trauma, radiation injury, parasellar tumors, and hypertension etc. These associations may not necessarily be causative but do warrant consideration due to impact on treatment.(Mainly neurosurgical operation.) The incidence of moyamoya disease is highest in Japan. The prevalence of MMD is 1 person per 100,000 population. The prevalence and incidence of moyamoya disease in Japan has been reported to be 3.16 cases and 0.35 case per 100,000 people, respectively. With regard to sex, the female-to-male ratio is 1.4:1. A bimodal peak of incidence is noted, with symptoms occurring either in the first decade(5-10yr) or in the third and fourth decades (30-40yr)of life. Mortality rates of moyamoya disease are approximately 10% in adults and 4.3% in children. Death is usually from hemorrhage. In aspect of life insurance, MR is 1700%, EDR is 16 per 1000 persons. Children and adults with moyamoya disease (MMD) may have different clinical presentations. The symptoms and clinical course vary widely from asymptomatic to transient events to severe neurologic deficits. Adults experience hemorrhage more commonly; cerebral ischemic events are more common in children. Children may have hemiparesis, monoparesis, sensory impairment, involuntary movements, headaches, dizziness, or seizures. Mental retardation or persistent neurologic deficits may be present. Adults may have symptoms and signs similar to those in children, but intraventricular, subarachnoid, or intracerebral hemorrhage of sudden onset is more common in adults. Recently increasing diagnosis of MMD with MRI, followed by surgical operation is noted. MMD needs to be considered as the "CI" state now in life insurance fields.

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea

Cheon, Chong Kun,Kim, Su Yung,Yoo, Jae-Ho The Korean Pediatric Society 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.6

Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with thyrotoxicosis. Recently, we encountered two adolescent Korean patients with Moyamoya disease associated with Graves' disease who presented with episodic right-sided hemiparesis and syncope. These two girls who had Graves' disease had no history of other diseases or head trauma. A thyroid function test revealed a euthyroid state and a high thyroid-stimulating hormone (TSH) receptor antibody titer at that time. The patients were diagnosed with Moyamoya disease based on brain magnetic resonance angiography and cerebral four-vessel angiography. The patients underwent cranial revascularization by encephalo-duroarterio-synangiosis as soon as a diagnosis was made, which resulted in successful symptom resolution. They fared well and had no additional neurological symptoms as of their last follow-up visits. Here, we report these two cases of confirmed Moyamoya disease complicated by Graves' disease with a review of the literature, and discuss the possible association between the two diseases. To our knowledge, this is the first report in South Korea on Moyamoya disease associated with Graves' disease in adolescents with a euthyroid.

모야모야병의 EDAMS 수술의 치료결과

허승호,나영신,손문준,김정훈,노성우,김창진,권양,임승철,이정교,권병덕 대한신경외과학회 1999 Journal of Korean neurosurgical society Vol.28 No.3

Moyamoya Syndrome : A Window of Moyamoya Disease

Phi, Ji Hoon,Wang, Kyu-Chang,Lee, Ji Yeoun,Kim, Seung-Ki The Korean Neurosurgical Society 2015 Journal of Korean neurosurgical society Vol.57 No.6

Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down syndrome, thyroid disease, and cranial irradiation. Moyamoya syndrome shares phenotypical characteristics with idiopathic moyamoya disease. However, they differ in other details, including clinical presentations, natural history, and treatment considerations. The study of moyamoya syndrome can provide clinicians and researchers with valuable knowledge and insight. Although it is infrequently encountered in clinical practice, moyamoya-like vasculopathy can severely complicate outcomes for patients with various underlying diseases when the clinician fails to expect or diagnose moyamoya syndrome development. Furthermore, moyamoya syndrome could be used as a doorway to more enigmatic moyamoya disease in research. More comprehensive survey and investigation are required to uncover the secrets of all the moyamoya-like phenomena.

증예(症例) : 모야모야 병과 동반된 관상동맥질환 4 예

박성현 ( Sung Hyun Park ),김기회 ( Ki Hoi Kim ),김정관 ( Jeong Gwan Kim ),송지은 ( Ji Eun Song ),오왕국 ( Wang Guk Oh ),장미영 ( Mi Young Jang ),박종필 ( Jong Pil Park ) 전북대학교 의과학연구소 2010 全北醫大論文集 Vol.34 No.2

현재까지 한국에서 모야모야 병과 동반된 관상동맥질환은 매우 드물며 단 4례만이 보고되어 저자들은 이러한 환자 4례를 경험하였기에 문헌고찰과 함께 보고하는 바이다. 본 증례들은 모야모야 병이 전신 혈관 질환이라는 주장을 뒷받침할 수 있으며 모야모야 병을 추적관찰 할 때 관상동맥질환의 가능성에 대해 점검할 필요가 있을 것으로 생각하는 바이다. Moyamoya disease is an occlusive intracranial arteriopathy with an abnormal cerebrovascular collateral network at the base of brain. Although the etiology and pathogenesis remains unknown, there are several reports that moyamoya disease should be regarded as a progressive systemic disease. There are many reports which showed this disease is correlated with renal artery stenosis. However, it is rare for it to be associated with coronary artery disease. We experienced four cases of coronary artery disease associated with moyamoya disease in our center. The coronary angiography showed significant stenosis of coronary artery. Three of these patients were underwent percutaneous coronary intervention. One patient had three vessel disease and have been doing medical treatment. We concluded that the patient with moyamoya disease can be affected coronary artery and should be evaluated about the coronary artery disease.

Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene

Miki Fujimura,Shinya Sonobe,Yasuo Nishijima,Kuniyasu Niizuma,Hiroyuki Sakata,Shigeo Kure,Teiji Tominaga 대한뇌졸중학회 2014 Journal of stroke Vol.16 No.2

Moyamoya disease is characterized by a progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology is still unknown, recent genome-wide and locus-specific association studies identified RNF213 as an important susceptibility gene of moyamoya disease among East Asian population. A polymorphism in c.14576G>A in RNF213 was identified in 95% of familial patients with moyamoya disease and 79% of sporadic cases, and patients having this polymorphism were found to have significantly earlier disease onset and a more severe form of moyamoya disease, such as the presentation of cerebral infarction and posterior cerebral artery stenosis. The exact mechanism by which the RNF213 abnormality relates to moyamoya disease remains unknown, while recent reports using genetically engineered mice lacking RNF213 by homologous recombination provide new insight for the pathogenesis of this rare entity. Regarding biomarkers of moyamoya disease, moyamoya disease is characterized by an increased expression of angiogenic factors and pro-inflammatory molecules such as vascular endothelial growth factors and matrix metalloproteinase-9, which may partly explain its clinical manifestations of the pathologic angiogenesis, spontaneous hemorrhage, and higher incidence of cerebral hyperperfusion after revascularization surgery. More recently, blockade of these pro-inflammatory molecules during perioperative period is attempted to reduce the potential risk of surgical complication including cerebral hyperperfusion syndrome. In this review article, we focus on the genetics and biomarkers of moyamoya disease, and sought to discuss their clinical implication.

모야모야병 환자의 뼈목동맥관 직경과 임상표현과의 관계

안소현,송홍기,김철호,손종희,장민욱,최휘철,Ahn, So Hyun,Song, Hong-ki,Kim, Cheol Ho,Jang, Min Uk,Sohn, Jong-Hee,Choi, Hui Chul 대한임상신경생리학회 2016 Annals of Clinical Neurophysiology Vol.18 No.1

Background: Moyamoya disease is characterized by a progressive stenosis or occlusion of the intracranial internal carotid artery and/or the proximal portion of the anterior cerebral artery and middle cerebral artery. Whether the onset time was childhood or adulthood, the bony carotid canal diameter might be different, but reflects the size of internal carotid artery passing through the bony carotid canal. In this study, we aimed to identify the relationship between bony carotid canal diameter and clinical manifestation. Methods: 146 consecutive patients diagnosed with moyamoya disease by brain imaging studies were included. We measured the diameter of a transverse portion of bony carotid canal on bone window of a brain computed tomography(CT) image. Patients were divided into two groups, ischemic or hemorrhagic stroke according to clinical manifestation. As a result, 115 patients were included. The Suzuki stage was used as criteria for disease progression. Results: Bony carotid canal diameter was $3.6{\pm}0.5$ (right) and $3.6{\pm}0.4$ (left) in the hemorrhagic stroke group, and $3.7{\pm}0.4$ (right) and $3.6{\pm}0.4$ (left) in the ischemic stroke group. The bony carotid canal diameter of the moyamoya vessels (3.6 mm) was smaller than the diameter of non-moyamoya vessels (3.8 mm), significantly (p = 0.042). However, there was no difference in the collateral patterns and clinical manifestation in a comparison of both groups. Conclusions: In our study, there was no significant difference of clinical manifestations and collateral patterns depend on the bony carotid canal diameter in patients with moyamoya disease. These findings suggest that the clinical presentations of moyamoya disease are not related to the onset time of the disease.

Comparative Analysis of Serum Proteomes of Moyamoya Disease and Normal Controls

Koh, Eun-Jeong,Kim, Han-Na,Ma, Tian-Ze,Choi, Ha-Young,Kwak, Yong-Geun The Korean Neurosurgical Society 2010 Journal of Korean neurosurgical society Vol.48 No.1

Objective : The etiology and pathogenesis of moyamoya disease remain unclear. Furthermore, the definitive diagnostic protein-biomarkers for moyamoya disease are still unknown. The present study analyzed serum proteomes from normal controls and moyamoya patients to identify novel serological biomarkers for diagnosing moyamoya disease. Methods : We compared the two-dimensional electrophoresis patterns of sera from moyamoya disease patients and normal controls and identified the differentially-expressed spots by matrix-assisted laser desorption/ionization-time-of flight mass spectrometry and electrospray ionization quadruple time-of-flight mass spectrometry. Results : We found and analyzed 22 differently-expressed proteomes. Two proteins were up-regulated. Twenty proteins were down-regulated. Complement C1 inhibitor protein and apolipoprotein C-III showed predominantly changed expressions (complement C1 inhibitor protein averaged a 7.23-fold expression in moyamoya patients as compared to controls, while apolipoprotein C-III averaged a 0.066-fold expression). Conclusion : Although our study had a small sample size, our proteomic data provide serologic clue proteins for understanding moyamoya disease.

The Top-100 most cited articles on Moyamoya disease: A bibliometric analysis

Alkhaibary Ali,Almutairi Othman T.,Elarjani Turki,Alnefaie Nada,Alhussinan Modhi A.,Bafaquh Mohammed,Alturki Abdulrahman Y. 대한뇌혈관외과학회 2021 Journal of Cerebrovascular and Endovascular Neuros Vol.23 No.2

Objective Moyamoya disease (MMD) is a progressive steno-occlusive cerebrovascular phenomenon with unknown pathogenesis. Considering the abundance of articles addressing Moyamoya disease, a detailed analysis concerning the publication trends is of paramount importance. The aim of the study is to report the current knowledge of the top-100 most cited articles on Moyamoya disease in the literature. Methods A non-time restricted keyword-based search was performed in June 2020 using the Scopus database. The search keywords included the following: “Moyamoya”, “Moyamoya disease”, and “Moyamoya syndrome”. The search result was used to rank the articles based on their citation count. The top-100 most-cited articles were obtained and classified into seven categories. Results A total of 3,543 articles on Moyamoya disease were published between 1955 and 2020. The Top-100 articles were published between 1977 and 2016 with a total of 16,119 citations, per year, and 7.23% rate of self-citation. The 1990s was the most productive decade (N=42). The most contributing country to the list was Japan (N=60). Stroke was the most active journal (N=23). Houkin, K., a Japanese neurosurgeon, was the most prolific author (N=15). Conclusions Moyamoya disease has been extensively investigated in the literature throughout the years. The majority of articles published in the literature were addressing the surgical management and clinical outcome. Authors from neurosurgical backgrounds were the most active contributors to the field of Moyamoya disease.

모야모야병의 임상 및 신경영상 소견 : 측부 순환혈관 소견을 중심으로

김남곤,최낙천,권오영,박기종,전성철,임병훈,김남곤,최낙천,권오영 대한신경과학회 1998 대한신경과학회지 Vol.16 No.4