An autopsied case of Williams syndrome complicated by moyamoya disease

Kawai, Mie; Nishikawa, Toshio; Tanaka, Masato; Ando, Akiko; Kasajima, Takeshi; Higa, Takashi; Takagi, Tatsuya; Kagawa, Mizuo; Momma, Kazuo

doi:10.1111/j.1442-200x.1993.tb03009.x

Cited by 35 publications

(18 citation statements)

References 8 publications

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“…Table 6 summarizes the clinical associations noted in several published series. [127][128][129][130][131] Natural History and Prognosis of Moyamoya. The prognosis of moyamoya disease is difficult to predict because its natural history is not firmly established.…”

Section: Moyamoya Disease and Moyamoya Syndromementioning

confidence: 99%

Management of Stroke in Infants and Children

Roach¹,

Golomb²,

Adams³

et al. 2008

Stroke

870

377

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Purpose— The purpose of this statement is to review the literature on childhood stroke and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who are responsible for diagnosing and treating infants, children, and adolescents with cerebrovascular disease. Methods— The Writing Group members were appointed by the American Heart Association Stroke Council’s Scientific Statement Oversight Committee. The panel included members with several different areas of expertise. Each of the panel’s recommendations was weighted by applying the American Heart Association Stroke Council’s Levels of Evidence grading algorithm. After being reviewed by panel members, the manuscript was reviewed by 4 expert peer reviewers and by members of the Stroke Council Leadership Committee and was approved by the American Heart Association Science Advisory and Coordinating Committee. We anticipate that this statement will need to be updated in 4 years. Results— Evidence-based recommendations are provided for the prevention of ischemic stroke caused by sickle cell disease, moyamoya disease, cervicocephalic arterial dissection, and cardiogenic embolism. Recommendations on the evaluation and management of hemorrhagic stroke also are provided. Protocols for dosing of heparin and warfarin in children are suggested. Also included are recommendations on the evaluation and management of perinatal stroke and cerebral sinovenous thrombosis in children.

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Section: Moyamoya Disease and Moyamoya Syndromementioning

confidence: 99%

Management of Stroke in Infants and Children

Roach¹,

Golomb²,

Adams³

et al. 2008

Stroke

870

377

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“…Stroke has been reported in adults with WBS, though it is fairly rare. 131,132 Stenosis of the coronary ostia has been documented by angiography in children with WBS 128 and can be caused by the typical medial hyperplasia or obstruction secondary to aberrant dysplastic aortic valve leaflets. Coronary artery stenosis has been implicated as one of the causes of sudden death in both children and adults; the absolute risk of this potential complication seems low though the relative risk has been suggested to be 25-100 fold greater in individuals with WBS than the general population.…”

Section: Cardiovascular Abnormalities During Adulthoodmentioning

confidence: 99%

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Lin

Basson

Goldmuntz

et al. 2008

Genetics in Medicine

133

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Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome. Genet Med 2008:10(7):469 -494.

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“…The majority of dilated vessels are fibrotic, have attenuated media, and often have segmentation of the elastic lamina. 30,42,46 In the stenotic type, vessels show concentric thickening of the intima with duplication of the elastic lamina and fibrosis of the tunica media. 9,30,34,46,63,74 Fibrocellular intimal thickening is responsible for luminal stenosis in both large and perforating arteries.…”

Section: Pathologymentioning

confidence: 99%

“…30,42,46 In the stenotic type, vessels show concentric thickening of the intima with duplication of the elastic lamina and fibrosis of the tunica media. 9,30,34,46,63,74 Fibrocellular intimal thickening is responsible for luminal stenosis in both large and perforating arteries. 42,61,63 Histopathologically, the intima of the major arteries shows eccentrically laminated thickening.…”

Section: Pathologymentioning

confidence: 99%

Moyamoya disease: a summary

Burke

Burke²,

Sherma

et al. 2009

FOC

179

150

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Moyamoya, meaning a “hazy puff of smoke” in Japanese, is a chronic, occlusive cerebrovascular disease involving bilateral stenosis or occlusion of the terminal portion of the internal carotid arteries (ICAs) and/or the proximal portions of the anterior cerebral arteries and middle cerebral arteries (MCAs). The Ministry of Health and Welfare of Japan has defined 4 types of moyamoya disease (MMD): ischemic, hemorrhagic, epileptic, and “other.” The ischemic type has been shown to predominate in childhood, while the hemorrhagic type is more often observed in the adult population. The highest prevalence of MMD is found in Japan, with a higher female to male ratio. Studies have shown a possible genetic association of MMD linked to chromosome 17 in Japanese cases as well as in cases found in other demographics. During autopsy, intracerebral hematoma is found and most commonly serves as the major cause of death in patients with MMD. Moyamoya vessels at the base of the brain are composed of medium-sized or small muscular arteries emanating from the circle of Willis, mainly the intracranial portions of ICAs, anterior choroidal arteries, and posterior cerebral arteries, forming complex channels that connect with distal positions of the MCAs. Off of these channels are small tortuous and dilated vessels that penetrate into the base of the brain at the site of the thalamoperforate and lenticulostriate arteries. On angiography, there is the characteristic stenosis or occlusion bilaterally at the terminal portion of the ICAs as well as the moyamoya vessels at the base of the brain. Six angiographic stages have been described, from Stage 1, which reveals a narrowing of the carotid forks, to Stage 6, in which the moyamoya vessels disappear and collateral circulation is produced solely from the external carotid arteries. Cases with milder symptoms are usually treated conservatively; however, more severe symptomatic cases are treated using revascularization procedures. Surgical treatments are divided into 3 types: direct, indirect, and combined/other methods. Direct bypass includes superficial temporal artery-MCA bypass or use of other graft types. Indirect procedures bring in circulation to the intracranial regions by introducing newly developed vasculature from newly approximated tissues. These procedures may not be enough to prevent further ischemia; therefore, a combination of direct and indirect procedures is more suitable. This article will give a review of the epidemiology, natural history, pathology, pathophysiology, and diagnostic criteria, including imaging, and briefly describe the surgical treatment of MMD.

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An autopsied case of Williams syndrome complicated by moyamoya disease

Cited by 35 publications

References 8 publications

Management of Stroke in Infants and Children

Management of Stroke in Infants and Children

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Moyamoya disease: a summary

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