Risk factors of Moyamoya disease in Canada and the USA
Introduction
Moyamoya disease is a rare, indeed very rare, disorder characterized by progressive stenosis and occlusion of the internal carotid arteries and ultimately arteries of the circle of Willis and its major branches. This curious disease was first described in 1957 by Takeuchi and Shimizu as bilateral hypogenesis of the internal carotid arteries and in 1968, Kudo published a paper entitled `spontaneous occlusion of the circle of Willis: Disease apparently confined to the Japanese' 1, 2. In the same year, Nishimoto and Takeuchi reviewed 96 cases from Japan and in 1969, Suzuki and Takaku introduced the term `Moyamoya disease' to describe the numerous collateral vessels at the base which resembled a `puff of smoke' 3, 4. Until this time, the disease was thought to be confined to the Japanese.
In the vast geographical area of North America, Moyamoya is rare, but clearly under diagnosed, often misdiagnosed and probably frequently asymptomatic. Many neurologists and pediatricians in North America have little awareness of the disorder. The incidence is, therefore, unknown and in this series, the selection bias is high in that many of the patients were sent to the author because they harboured aneurysms in unusual locations and in particular, aneurysms arising from vessels at the posterior circulation in addition to occlusion of the carotid arteries.
The population of Canada and the USA is, by definition, multiracial and multicultural, with almost every racial group represented. We became aware, however, that this disorder in our series appeared to have a much higher incidence in certain racial groups with a disproportionate representation of patients with Asian origins including Native American. Moreover, despite a uniformly negative investigation for `vasculitis', these patients frequently exhibited a high incidence of risk factors and disorders known to be associated with vascular disease.
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Clinical features
There were 39 patients whose age ranged from 5 to 47 years. Of these 58% of the patients were female. A total of 23 patients presented with hemorrhage and 16 with cerebral ischemia or infarction.
All patients had four vessel cerebral angiography and in the latter part of the series, computed tomography (CT) and magnetic resonance imaging (MRI) examinations. As well, each patient underwent a standard hematology work-up and screen for stroke risk factors and vasculitis. The diagnosis of Moyamoya
Results
A total of 11 racial groups were represented in these 39 patients (Table 1). The largest group were patients with North American Indian heritage, followed by patients with Japanese origin. Although East Indian, African American, Innuit, Chinese, Filipino, Hispanic, Korean and Malayasian patients were seen, the third largest group was Caucasian. There was a particularly high incidence of associated disorders in these patients (Table 2) with hypertension, pharyngitis and fibromuscular hyperplasia
Discussion
Moyamoya disease was thought initially to be unique to the Japanese. It is now apparent that the disorder occurs worldwide, albeit with some preponderance in individuals with Asian heritage. A single etiologic agent has not been identified, although toxic, infectious and inflammatory etiologies have been proposed, but never proven. Surgeons and investigators have concentrated their efforts on understanding the hemodynamics and surgical techniques to improve cerebral circulation. The
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Hypoplasia of the bilateral internal carotid arteries
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2021, Stroke: Pathophysiology, Diagnosis, and ManagementDiffering Surgical Outcomes in a Multiethnic Cohort Suggest Racial Phenotypes in Moyamoya Disease
2019, World NeurosurgeryCitation Excerpt :Due to the large prevalence of MMD in the Far East,6 most of the studies describing its presentation and natural history have been focused on the Asian patient population.7-10 The literature on white and black patients with MMD in Europe and North America suggests that different racial groups may exhibit variable phenotypes of the disease.11-15 For example, adult Asian patients more commonly present with hemorrhage rather than ischemia when compared with white patients, and this has been a consistent finding.16-18
Surgical revascularization in North American adults with moyamoya phenomenon: Long-term angiographic follow-up
2015, Journal of Stroke and Cerebrovascular DiseasesCitation Excerpt :Together, these data provide insight into the long-term angiographic response and clinical outcome after surgical treatment of North American adult moyamoya population and suggest (1) surgical revascularization in this patient population is an effective means for improving perfusion to the affected hemisphere and reducing the risk of subsequent neurologic events and (2) direct surgical revascularization provides more robust and consistent angiographic results. As has been documented by several authors including ourselves,8,22-26 North American adult patients with moyamoya phenomenon have distinct clinical characteristics as compared with the more extensively studied Asian adult population. One of the most prominent distinctions appears to be the manner of patient presentation.
Stroke and Substance Abuse
2015, Stroke: Pathophysiology, Diagnosis, and ManagementCoexisting diseases of moyamoya vasculopathy
2014, Journal of Stroke and Cerebrovascular DiseasesCitation Excerpt :Moyamoya disease (MMD) is defined by the presence of bilateral MMV with unknown etiology or presence of unilateral MMV at 1 side with obvious terminal contralateral ICA stenosis in children.2 MMD should be diagnosed after excluding known coexisting, including concurrent or underlying, diseases,2,3 such as atherosclerosis,4 hyperthyroidism,5-7 Down syndrome,8 homocystinuria,9 fibromuscular dysplasia,10 neurofibromatosis type 1,11 polycystic kidney disease,12 Marfan syndrome,13 sickle cell anemia,14 thalassemia,15 iron deficiency anemia,16 protein S or protein C deficiency,17,18 homocysteinemia,19 antiphospholipid syndrome,20 thrombophilia,21 and systemic lupus erythematosus (SLE)22 and history of central nervous system infection,23 cranial therapeutic irradiation,24 oral contraceptive pill use,25 and abuse of cocaine or 3,4-methylenedioxy-N-methylamphetamine.26,27 Patients with bilateral MMV and one of these coexisting diseases are said to have quasi-moyamoya disease (quasi-MMD).28
Moyamoya syndrome associated with sickle cell trait in a child
2014, Brain and DevelopmentCitation Excerpt :Inspite of the well known relationship between SCD and moyomoya syndrome, a relationship with sickle cell trait is not known. To our knowledge, two such cases have been reported with moyamoya syndrome associated with sickle cell trait in the literature [3,4]. Recently, Agrawal et al. reported a 44-year-old man presented with left-sided weakness and numbness.