Recent Advances in Moyamoya Disease: Pathophysiology and Treatment (original) (raw)
Related papers
Recurrent Stroke in a Young Man with Moyamoya Disease on Medical Therapy: A Case Report
Journal of Clinical and Health Sciences, 2022
Moyamoya disease (MMD) is a rare intracranial vasculopathy characterized by the progressive occlusion of the terminal internal carotid arteries and their proximal branches. Various factors including genetic and inflammation are the proposed pathogenesis of MMD. We present a case of a 31-year-old man who had recurrent stroke secondary to MMD. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) demonstrated an infarct in the right middle cerebral artery (MCA) territory, and stenosis of the terminal right internal carotid artery (ICA) and its proximal branches. He initially declined surgical management and was treated with antiplatelet. After his third stroke, he finally underwent right superficial temporal artery (STA) to middle cerebral artery (MCA) bypass surgery. He improved following rehabilitation with no further recurrence. The role of surgical revascularization in the prevention of stroke is well-described in the literature but evidence regarding medical t...
The Israel Medical Association journal : IMAJ, 2005
Moyamoya disease is a cerebral vasculopathy characterized mainly by progressive narrowing of the major intracranial vessels. While more common and having a familial predilection in the Far East, it can also develop in association with some common hereditary diseases and can be acquired after environmental exposure. In the young its manifestations are the result of cerebral ischemia. Adults usually suffer from repeated incidents of intracerebral hemorrhage. Surgical revascularization of ischemic cerebral territories plays a major role in their treatment. We review the literature and present our series of three adult and five pediatric patients; these patients were diagnosed at our institution and treated with indirect revascularization techniques.
Internal carotid artery stenosis: A novel surgical model for moyamoya syndrome
PLOS ONE, 2018
Moyamoya is a cerebrovascular disorder characterized by progressive stenosis of the intracranial internal carotid arteries. There are two forms: Disease and Syndrome, with each characterized by the sub-population it affects. Moyamoya syndrome (MMS) is more prominent in adults in their 20's-40's, and is often associated with autoimmune diseases. Currently, there are no surgical models for inducing moyamoya syndrome, so our aim was to develop a new animal model to study this relatively unknown cerebrovascular disease. Here, we demonstrate a new surgical technique termed internal carotid artery stenosis (ICAS), to mimic MMS using micro-coils on the proximal ICA. We tested for Moyamoya-like vasculopathies by fluorescently labelling the mouse cerebrovasculature with Di I for visualization and analysis of vessel diameter at the distal ICA and anastomoses on the cortical surface. Results show a significant narrowing of the distal ICA and anterior cerebral artery (ACA) in the Circle of Willis, as observed in humans. There is also a significant decrease in the number of anastomoses between the middle cerebral artery (MCA) and the ACA in the watershed region of the cortex. While further characterization is needed, this ICAS model can be applied to transgenic mice displaying co-morbidities as observed within the Moyamoya syndrome population, allowing a better understanding of the disease and development of novel treatments.
Stroke; a journal of cerebral circulation, 2016
Middle cerebral artery steno-occlusive disease (MCAD) is not an uncommon cause of ischemic stroke in young Asians. Aside from atherosclerosis, the pathogenesis of MCAD include various nonatherosclerotic vasculopathies, most of which are yet to be defined. This study investigated the pathogenesis of symptomatic isolated MCAD in young Asian patients using high-resolution magnetic resonance imaging (HR-MRI) and mutation analysis of RNF213. Patients aged <60 years with stroke or transient ischemic attack caused by MCAD were prospectively enrolled. Patients with a confirmed diagnosis of moyamoya disease, dissection, and vasculitis; with significant steno-occlusion in cerebral arteries other than the MCA; or with high-risk cardioembolic source were excluded. Using high-resolution MRI, patients were classified into an atherosclerosis group and a nonatherosclerosis group. Eighty-one patients were enrolled, 45 (56.6%) in the atherosclerosis and 36 (44.4%) in the nonatherosclerosis group. ...
Unraveling the mysteries of moyamoya: a rare case report of stroke in young
International Journal of Research in Medical Sciences, 2024
Moyamoya disease is a unique cerebrovascular disease that is characterized by chronic progressive stenosis of distal part of internal carotid artery with consequent development of a network of collateral vessels in response to brain ischemia. It is mainly seen in individuals of Asian descent and is the most common cause of stroke in Asian children. However, it is rare in Indian subcontinent. Here we report a case of young adult who manifested with moyamoya disease, evident from acute onset ischemic stroke. The patient underwent a diagnostic cerebral angiogram that showed bilateral posterior cerebral artery stenosis with pathognomonic collateral moyamoya vessels. The patient subsequently underwent elective surgical intervention procedures to prevent further complications.
An atypical case of adult Moyamoya disease with initial onset of brain stem ischemia
Journal of the Neurological Sciences, 1998
We present an atypical case of adult moyamoya disease whose clinical onset consisted of ischemic symptoms of the brain stem. She initially presented with left hemisensory disturbance caused by a pontine lesion, followed by a myelopathy of the upper cervical spinal cord. Eight months later, she presented with left hemiplegia and disturbed consciousness. Magnetic resonance angiography showed significant narrowing of both horizontal portions of the middle cerebral arteries (M1). Conventional angiography revealed bilateral occlusion of the internal carotid arteries. Her anterior circulation was supplied from the vertebro-basilar system through Moyamoya vessels and leptomeningeal collaterals. The intracranial steal phenomenon was thought to be the reason for the preceding events in the brain stem and upper cervical spinal cord. In addition, transcranial color-coded duplex sonography (TCCS) showed identical findings to conventional angiography with antegrade flow in the proximal M1 and retrograde flow in the distal M1. Thus, TCCS was useful for diagnosing the M1 occlusion in this case of Moyamoya disease.
Moyamoya Disease: A Rare Vascular Disease of the CNS
Vascular Malformations of the Central Nervous System [Working Title]
Moyamoya disease (MMD) is a rare disease affecting the cerebral vasculature of the central nervous system (CNS) with a reported incidence of 0.35-0.94 per 100,000 populations. It was first reported from Japan and later from other parts of the world. The pathology is narrowing of blood vessels supplying anterior circulation and rarely posterior circulation. It was believed that the disease is genetic in origin, but environmental factors also play a role. Patients with this rare disease may present with ischemic or hemorrhagic symptoms. Ischemic symptoms account for the disease in most of the pediatric patients, whereas in adults, hemorrhage is more common. Diagnostic imaging like CT angiogram and magnetic resonance angiogram helps in demonstrating the narrowing or the collateral vessels like "a puff of smoke" (moyamoya) formed at the base of the brain. Moyamoya disease is treated medically and/or surgically. Aspirin is the main medication used. Surgical options are direct or indirect revascularization techniques to bypass the stenosis. The disease is progressive in majority of the patients, but if treated early, they can have good prognosis especially children.
Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?
PloS one, 2015
Both Moyamoya disease (MMD) and intracranial atherosclerotic stenosis (ICAS) are more prevalent in Asians than in Westerners. We hypothesized that a substantial proportion of patients with adult-onset MMD were misclassified as having ICAS, which may in part explain the high prevalence of intracranial atherosclerotic stroke in Asians. We analyzed 352 consecutive patients with ischemic events within the MCA distribution and relevant intracranial arterial stenosis, but no demonstrable carotid or cardiac embolism sources. Conventional angiography was performed in 249 (70.7%) patients, and the remains underwent MRA. The occurrence of the c.14429G>A (p.Arg4810Lys) variant in ring finger protein 213 (RNF213) was analyzed. This gene was recently identified as a susceptibility gene for MMD in East Asians. The p.Arg4810Lys variant was observed in half of patients with intracranial stenosis (176 of 352, 50.0%), in no healthy control subjects (n = 51), and in 3.2% of stroke control subjects ...
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome
Neurosurgical Review, 2020
Moyamoya vasculopathy is a rare chronic cerebrovascular disorder characterized by the stenosis of the terminal branches of the internal carotid arteries and the proximal tracts of anterior and middle cerebral arteries. Although surgical revascularization does not significantly change the underlying pathogenic mechanisms, it plays a pivotal role in the management of affected individuals, allowing to decrease the risk of ischemic and hemorrhagic complications. Surgical approaches may be direct (extracranial-intracranial bypass), indirect, or a combination of the two. Several indirect techniques classifiable according to the tissue (muscle, periosteum, galea, dura mater, and extracranial tissues) or vessel (artery) used as a source of blood supply are currently available. In this study, we reviewed the pertinent literature and analyzed the advantages, disadvantages, and pitfalls of the most relevant indirect revascularization techniques. We discussed the technical aspects and the thera...
Neurosurgical Focus, 2009
Moyamoya disease is an obliterative vasculopathy of the large arteries at the base of the brain. In the US, it most commonly affects women in their 3rd and 4th decades of life, frequently causing ischemic stroke. The natural history of this disorder is not well described. It is very likely that hemodynamic factors play an important role in the risk of future stroke, as has been established in atherosclerotic carotid occlusive disease. The authors describe an ongoing, prospective observational study designed to test the hypothesis that increased oxygen extraction in the cerebral hemisphere beyond the occlusive lesion is a predictor of subsequent risk of ipsilateral stroke in medically treated patients with moyamoya phenomenon. On enrollment, all patients undergo regional measurements of cerebral oxygen extraction fraction (OEF) with PET. Information on baseline clinical, laboratory, epidemiological, and angiographic risk factors are obtained at the time of the PET study. Decisions re...