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  • Updated 10.26.2023
  • Released 09.18.1995
  • Expires For CME 10.26.2026

Moyamoya disease



In this article, the authors provide a comprehensive overview of moyamoya disease, including advances in the genetics and molecular biology of moyamoya disease, the role of newer imaging techniques, and the surgical management of moyamoya disease.

Key points

• Moyamoya disease is an idiopathic non-atherosclerotic vasculopathy with characteristic angiographic abnormalities involving the terminal internal carotid artery and its branches.

• Similar angiographic changes have been associated with diverse conditions, including neurofibromatosis, craniopharyngioma, Down syndrome, sickle cell disease, Graves disease, and the use of vasoconstrictive drugs such as cocaine.

• Patients can be asymptomatic or present with ischemic or hemorrhagic strokes. Other manifestations include intellectual dysfunction, seizures, and movement disorders.

• Early surgical intervention (eg, encephalo-duro-arterio-synangiosis) before the establishment of irreversible hemodynamic change appears to be effective in preventing complications from progressive arterial stenosis and collateral formation.

Historical note and terminology

Moyamoya disease is a nonatherosclerotic and noninflammatory condition characterized by progressive stenosis of the terminal internal carotid artery and the proximal portions of the anterior cerebral and middle cerebral arteries (105; 169). The disease is usually bilateral but can be unilateral. It may begin as an asymptomatic isolated stenosis of the middle cerebral artery stem, progressing to symptomatic moyamoya disease over a few years (25). The term "moyamoya disease" is used when the internal carotid artery stenoses and associated collaterals are observed and when no associated diseases are identified. "Moyamoya phenomenon" is used to describe the extensive collateralization of the circle of Willis arteries associated with severe unilateral or bilateral internal carotid artery stenosis or occlusion in the presence of conditions such as sickle cell disease, atherosclerosis, cranial irradiation, and neurofibromatosis. Synonyms include "idiopathic progressive occlusive disease of the circle of Willis," "spontaneous occlusion of the circle of Willis" (100) "cerebral basal rete mirabile," and "cerebral juxtabasilar telangiectasia."

The history of moyamoya disease is fascinating. Shimizu and Takeuchi published the first case of moyamoya disease in 1957(172). Suzuki was the first to use the Japanese term "moyamoya" to describe the hazy, cloudy “puff of smoke” appearance of the network of dilated, abnormal microvasculature occurring in the region of the circle of Willis (177). These authors also described the six stages of angiographic progression, from stage 1 (narrowing of the carotid artery) to stage 6 when moyamoya vessels disappear and the external carotid arteries supply collateral flow. In 1964, Nishimoto published a series of 24 cases, including three new cases and 21 cases from the literature. The first autopsy report by Maki in 1965 demonstrated a narrowing of the lumen of the internal carotid artery, with intimal thickening but no abnormality of the media or adventitia and no inflammatory changes (128). In 1967, the proceedings of the Japan Neurosurgical Society were published and included a discussion of moyamoya disease (99). In 1968, Kudo published 12 cases and proposed that the dilated penetrating arteries represented an attempt to form collaterals in response to progressive occlusion of the main affected arteries (100). The same year, Nishimoto published a collection of 96 cases (149); therefore, the disease is sometimes referred to as “Nishimoto disease” or “Nishimoto-Takeuchi-Kudo disease.”

Tavares reported the first non-Japanese cases in 1969 (187). He described 10 cases and discussed the three major collateral pathways: (1) the circle of Willis, (2) leptomeningeal arteries, and (3) transdural vessels. Since Tavares' report, cases have been reported from all over the world. Large single and multicenter co-operative studies have described the clinical features of patient populations from various countries, including the United States, and the studies have highlighted differences between Caucasians and Eastern populations (22; 206; 97; 43; 134; 17; 46).

In 1978, the Research Committee on Moyamoya Disease organized by the Japanese Ministry of Health and Welfare published diagnostic criteria for moyamoya disease. The original criteria have undergone five revisions; the latest diagnostic criteria were published in 2021 (103).

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