RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly associated with moyamoya disease in East Asia. Many non-p.R4810K rare variants of RNF213 have been identified in white moyamoya disease patients, alth...

BACKGROUND AND PURPOSE Moyamoya disease has been classically described by the Asian experience, yet clinical aspects of moyamoya phenomena in the United States remain vastly undefined. The multifocal occlusive arterial disorder may be linked with numerous conditions; however, later stages of this syndrome share common vascular pathophysiology. This study is aimed at characterizing inpatient moy...

BACKGROUND AND PURPOSE Although studies have evaluated the differential imaging of moyamoya disease and atherosclerosis, none have investigated the added value of vessel wall magnetic resonance imaging (MRI). This study evaluates the added diagnostic value of vessel wall MRI in differentiating moyamoya disease, atherosclerotic-moyamoya syndrome (A-MMS), and vasculitic-MMS (V-MMS) with a multico...

OBJECTIVES To report a rare case of moyamoya syndrome with primary antiphospholipid syndrome (APS). CLINICAL PRESENTATION AND INTERVENTION A 41-year-old woman was admitted with sudden onset of left-sided hemiparesis. Magnetic resonance imaging and magnetic resonance angiography of the brain showed characteristic features of moyamoya vessels. Laboratory investigations revealed raised levels of...

A previously healthy 4-year-old female presented with an 18-month history of frequent headaches and seizures. Magnetic resonance imaging (MRI) and angiography revealed severe stenosis of the left proximal intracranial carotid artery, with bilateral development of moyamoya vessels, left greater than right. A diagnosis of moyamoya disease was made, and the patient was scheduled for surgical corre...

Moyamoya is a progressive disorder of the cerebral vasculature. Our report describes a rare case of Moyamoya disease with distal peripheral pulmonary artery stenoses and coronary fistulae in a 12-year-old Caucasian female patient.

BACKGROUND Moyamoya disease (MMD) is a progressive cerebrovascular occlusive disease of the bilateral internal carotid arteries that leads to a compensatory abnormal vascular network at the base of the brain. Its average annual incidence 0.54 per 100,000 population but it is the most common pediatric cerebrovascular disease in East Asia. The reported incidence in USA is approximately 0.086 per ...

BACKGROUND Whether unilateral moyamoya disease (MMD), confirmed by steno-occlusive lesion at the terminal portion of internal carotid artery with formation of moyamoya vessels unilaterally and normal or equivocal findings contralaterally, is an early form of definite (bilateral) MMD remains controversial. It is well-known that adult patients with MMD tend to suffer from cerebral hemorrhage, occ...

Moyamoya disease is a chronic, progressive occlusion of the circle of Willis arteries that leads to the development of characteristic collateral vessels seen on imaging, particularly cerebral angiography. The disease may develop in children and adults, but the clinical features differ. Moyamoya disease occurs predominantly in Japanese individuals but has been found in all races with varying age...

Moyamoya disease was diagnosed as the cause of cerebral infarction in eight young adults (seven women, one man), aged 17-40 (mean 33) years. All had angiographic abnormalities characteristic of moyamoya disease. Single-photon emission tomography showed bilateral carotid circulation hypoperfusion and posterior circulation hyperemia in all seven patients with regional cerebral blood flow studies....