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1.(MeSH)A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults.
C10.228.140.300.200.600, C10.228.140.300.510.200.737, C14.907.137.615, C14.907.253.123.620, C14.907.253.560.200.737, Cerebrovascular Moyamoya Disease (MeSH), Moya-Moya Disease (MeSH), Moyamoya Disease, Classic (MeSH), Moyamoya Disease, Primary (MeSH), Moyamoya Disease, Secondary (MeSH), Moyamoya Syndrome (MeSH), Progressive Intracranial Occlusive Arteropathy (Moyamoya) (MeSH)
Vascular Diseases - Arterial Brain Diseases, Arterial Diseases, Brain, Arterial Diseases, Intracranial, Brain Diseases, Arterial, Brain Disorders, Arterial, Intracranial Arterial Diseases, Intracranial Arterial Disorders - Brain Vascular Disorders, Cerebrovascular Disorders, Cerebrovascular Insufficiency, Cerebrovascular Occlusion, Intracranial Vascular Disorders, Vascular Diseases, Intracranial[Hyper.]
Arterial Obstructive Diseases, Arterial Occlusive Diseases - Arterial Diseases, Cerebral, Cerebral Arterial Diseases, Cerebral Artery Diseases - Arterial Diseases, Carotid, Arterial Diseases, Common Carotid, Arterial Diseases, External Carotid, Arterial Diseases, Internal Carotid, Atherosclerotic Disease, Carotid, Carotid Artery Diseases, Carotid Artery Disorders, Carotid Atherosclerosis, Carotid Atherosclerotic Disease, Common Carotid Artery Diseases, External Carotid Artery Diseases, Internal Carotid Artery Diseases[Hyper.]
Moyamoya Disease (n.) [MeSH]
||This article's introduction may be too long for its overall length. (May 2012)|
|Classification and external resources|
Schematic representation of the circle of Willis, arteries of the brain and brain stem.
|OMIM||252350 607151 608796|
The blood vessels develop collateral circulation around the blocked vessels to compensate for the blockage, but the collateral vessels are small, weak, and prone to hemorrhage, aneurysm and thrombosis. On X-rays, these collateral vessels have the appearance of a "puff of smoke" ("もやもや (moyamoya)" in Japanese).
The disease causes constrictions primarily in the internal carotid artery, which travels from the neck up inside the skull just under the brain in the cavernous sinus. At the Circle of Willis, the internal carotid artery flows into the middle cerebral artery, which continues into the brain, and the anterior cerebral artery, which is part of the Circle of Willis. Moyamoya disease often extends to the middle and anterior cerebral arteries.
When the internal carotid artery becomes completely blocked, the fine collateral circulation that it supplies is obliterated. Patients often survive on the collateral circulation from the back (posterior) of the Circle of Willis, from the basilar artery.
Drugs such as antiplatelet agents (e.g., aspirin) are usually given to prevent clots, but surgery is usually recommended. Since moyamoya tends to affect only the internal carotid artery and nearby sections of the adjacent anterior and middle cerebral arteries, surgeons can direct other arteries, such as the external carotid artery or the superficial temporal artery to replace its circulation. The arteries are either sewn directly into the brain circulation, or placed on the surface of the brain to reestablish new circulation after a few weeks. Although there is a 4% risk of stroke soon (30 days) after surgery, there is a 96% probability of remaining stroke-free over the next 5 years.
The constrictions of the arteries in moyamoya disease are unlike the constrictions in atherosclerosis. In atherosclerosis, the inner layer (lumen) of the arteries suffers an immune reaction, fills with inflammatory cells, and accumulates fatty cells and debris. In moyamoya, the inner layer of the carotid artery overgrows inward to constrict the artery, and the artery also fills with blood clots, which cause strokes.
It is a disease that tends to affect children and adults in the third to fourth decades of life. In children it tends to cause strokes or seizures. In adults it tends to cause strokes or bleeding. The clinical features are cerebral ischemia (strokes), recurrent transient ischemic attacks (TIAs), sensorimotor paralysis (numbness and paralysis of the extremities), convulsions and/or migraine-like headaches. After an ischemic stroke, a hemorrhagic reperfusion stroke may occur. A hemorrhagic stroke may also stem from rupture of the weak neovascular vessel walls.
The condition is believed to be hereditary and linked to q25.3, on chromosome 17 . In Japan the overall incidence is higher (0.35 per 100,000). In North America, women in the third or fourth decade of life are most affected. These women frequently experience transient ischemic attacks (TIA), cerebral hemorrhage or no symptoms. They have a higher risk of recurrent stroke and may be experiencing a distinct underlying pathophysiology compared to patients from Japan. Data suggest a potential benefit with surgery if early diagnosis is made. The pathogenesis of moyamoya disease is unknown.
Once it begins, the process of blockage (vascular occlusion) tends to continue despite any known medical management. In some people this leads to repeated strokes and severe functional impairment or even death. In others, this blockage may not cause any symptoms.
Moyamoya can be either congenital or acquired. Patients with Down syndrome, neurofibromatosis, or sickle cell disease can develop moyamoya malformations. It is more common in women than in men, although about a third of those affected are male . Brain radiation therapy in children with neurofibromatosis increases the risk of its development.
The diagnosis is initially suggested by CT, MRI, or angiogram. In fact, the name derives from its angiographic image; the "puff of smoke," which is how moyamoya loosely translates from Japanese, refers to the appearance of multiple compensatorily dilated striate vessels seen on angiography. Contrast-enhanced T1-weighted images are better than FLAIR images for depicting the leptomeningeal ivy sign in moyamoya disease. MRI and MRA should be performed for the diagnosis and follow-up of moyamoya disease. Diffusion-weighted imaging can also be used for following the clinical course of children with moyamoya disease, in whom new focal deficits are highly suspicious of new infarcts.
Often nuclear medicine studies such as SPECT (single photon emission computerized tomography) are used to demonstrate the decreased blood and oxygen supply to areas of the brain involved with moyamoya disease. Conventional angiography provided the conclusive diagnosis of moyamoya disease in most cases and should be performed before any surgical considerations.
There are many operations that have been developed for the condition, but currently the most favored are the in-direct procedures EDAS, EMS, and multiple burr holes and the direct procedure STA-MCA. Direct superficial temporal artery (STA) to middle cerebral artery (MCA) bypass is considered the treatment of choice, although its efficacy, particularly for hemorrhagic disease, remains uncertain. Multiple burr holes have been used in frontal and parietal lobes with good neovascularisation achieved.
The EDAS (encephaloduroarteriosynangiosis) procedure is a synangiosis procedure that requires dissection of a scalp artery over a course of several inches and then making a small temporary opening in the skull directly beneath the artery. The artery is then sutured to the surface of the brain and the bone replaced.
In the EMS (encephalomyosynangiosis) procedure, the temporalis muscle, which is in the temple region of the forehead, is dissected and through an opening in the skull placed onto the surface of the brain.
In the multiple burr holes procedure, multiple small holes (burr holes) are placed in the skull to allow for growth of new vessels into the brain from the scalp.
In the STA-MCA procedure, the scalp artery (superficial temporal artery or STA) is directly sutured to an artery on the surface of the brain (middle cerebral artery or MCA). This procedure is also commonly referred to as an EC-IC (External Carotid-Internal Carotid) bypass.
All of these operations have in common the concept of a blood and oxygen "starved" brain reaching out to grasp and develop new and more efficient means of bringing blood to the brain and bypassing the areas of blockage. The modified direct anastomosis and encephalo-myo-arterio-synagiosis play a role in this improvement by increasing cerebral blood flow (CBF) after the operation. A significant correlation is found between the postoperative effect and the stages of preoperative angiograms. It is crucial for surgery that the anesthesiologist have experience in managing children being treated for moyamoya as the type of anesthesia they require is very different from the standard anesthetic children get for almost any other type of neurosurgical procedure.
The natural history of this disorder is not well known. Symptomatic Moyamoya disease have occurred in individuals with seemingly asymptomatic stability thought due to vascular insufficiency secondary to brain trauma which may result from axonal shearing and acceleration / deceleration injuries such as falls and/or high speed motor vehicular accidents. The long term outlook for patients with treated moyamoya seems to be good.[when defined as?] While symptoms may seem to improve almost immediately after the in-direct EDAS, EMS, and multiple burr holes surgeries, it will take probably 6–12 months before new vessels (blood supply) can develop sufficiently. With the direct STA-MCA surgery, increased blood supply is immediate.
Once major strokes or bleeding take place, even with treatment, the patient may be left with permanent loss of function so it is very important to treat this condition promptly.