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Moyamoya syndrome

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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NORD is very grateful to R. Michael Scott, MD, Neurosurgeon-in-Chief, The Children's Hospital, Boston, and Edward R. Smith, MD, Department of Neurosurgery, Children's Hospital Boston/Harvard Medical School, for assistance in the preparation of this report.

Synonyms of Moyamoya syndrome

Disorder Subdivisions

General Discussion

Moyamoya syndrome is a progressive disorder that affects the blood vessels in the brain (cerebrovascular). It is characterized by the narrowing (stenosis) and/or closing (occlusion) of the carotid artery inside the skull, the major artery that delivers blood to the brain. At the same time, tiny blood vessels at the base of the brain open up in an apparent attempt to supply blood to the brain distal to the blockage. These tiny vessels are the "moyamoya" vessels for which the disease was named. Inadequate blood supply then leads to reduced oxygen delivery to the brain, and it is this oxygen deprivation that causes the signs of moyamoya. One of the symptoms is typically stroke, which results in paralysis of the face, arms or legs, loss of speech, etc., or temporary loss of neurologic function of body parts or speech (transient ischemic attacks). Other symptoms that may result include headaches, visual disturbances, developmental delay, and seizures. Approximately 10% of cases of moyamoya in Asian countries have a genetic cause. Patients with this arteriopathy that occurs either on a familial or idiopathic basis are said to have moyamoya disease. Patients in whom the artery changes occur in association with another process such as sickle cell disease or Down syndrome are said to have moyamoya syndrome. In this report, we use the term "moyamoya syndrome" as a shorthand for both forms.

Symptoms

Although moyamoya syndrome may occur at any age, there are two peak incidence periods --between the ages of five and ten years in children, and between 30 to 50 years in adults. Children with moyamoya syndrome may present with a variety of symptoms, but most present with those related to reduced brain blood supply, including stroke, TIAs, headaches, seizures, involuntary movements, or occasionally progressive developmental delay

Although adults with moyamoya also present with signs and symptoms of brain ischemia, they also have a greater tendency to suffer intracranial hemorrhage than children, presumably due to rupture of the tiny moyamoya blood vessels possibly in the setting of higher blood pressures seen in adulthood.

Causes

The causes of moyamoya syndrome are unknown. However, it is known that the disorder may appear as an isolated, primary disorder that may have genetic determinants or may occur in association with a number of different underlying disorders, as noted above.

Primary moyamoya disease may be genetically transmitted as an autosomal recessive trait, and accounts for approximately 10% of all cases in Japan. Two genetic locations have been identified as significant in primary moyamoya syndrome: 3p26-p24.2 and 17q25. The interaction of the two has not as yet been determined.

Secondary moyamoya syndrome occurs in association with a number of different underlying disorders or conditions, including certain infections involving the central nervous system, neurofibromatosis type I, sickle cell disease, and Down syndrome, although there is now a long list of conditions now published in the medical literature with which moyamoya syndrome is associated. In susceptible patients, the syndrome may occur following radiation therapy to the brain to treat certain brain tumors such as optic glioma or craniopharyngioma. Unlike primary moyamoya disease, the syndrome can occasionally present with angiographic changes involving only on one side. This process can remain unilateral, or - in about 30% of patients - progress to involve the other side. (For more information on these disorders, use "neurofibromatosis type I," "sickle cell," "Down syndrome", etc., as your search terms in the Rare Disease Database.)

Affected Populations

In Japan, moyamoya syndrome typically occurs in females under the age of 20. In Japan, the syndrome is estimated to occur in 1 per 1 million people. Although moyamoya was originally reported in individuals of Japanese ancestry, cases have been reported from elsewhere in Asia as well as from Europe, North and South America, and most series reported in the western hemisphere have a minority of patients of Asian descent.

Related Disorders

Symptoms of the following disorders can be similar to those of moyamoya disease. Comparisons may be useful for a differential diagnosis:

In children, any cause of occlusion or narrowing of blood vessels that supply the brain might present with symptoms similar to moyamoya. These conditions include dissection of neck or brain blood vessels (spontaneous or trauma-induced bleeding into the blood vessel wall, which both narrows the vessel and causes the formation of blood clot in the vessel), sickle cell disease (which causes clotting in major blood vessels in the brain) and inflammatory conditions, such as vasculitis, etc. In adults, strokes have multiple causes, including atherosclerosis of cerebral blood vessels, clots that lodge in brain blood vessels originating in the heart or from narrowed areas in the neck blood vessels, etc. Bleeding within the brain has multiple causes, and a discussion of differential diagnoses is beyond the scope of this article.

Standard Therapies

Diagnosis
In most patients, the diagnosis of moyamoya can be made from a careful assessment of an MRI and MRA. Cerebral arteriography will confirm the diagnosis, establish the exact degree of blood vessel narrowing, demonstrate the existing blood flow patterns to various areas of the brain, and allow treatment decisions to be made; for these reasons, it is the standard diagnostic tool for this condition.

Treatment
Medical treatment of moyamoya syndrome has been utilized to treat many of the symptoms of moyamoya, and is often an important part of the patient's management. Treatment measures include aspirin (to prevent or reduce the development of small blood clots developing within the narrowed vessels), calcium channel blockers (which may improve symptoms of headache and in some patients reduce symptoms related to transient ischemic attacks), and anti-seizure medications (when indicated because of a patient's seizure disorder). In rare instances, anticoagulants such as lovenox or coumadin are administered in very unstable patients having frequent symptoms, but because of the obvious risk of cerebral bleeding in this condition, they are rarely indicated as long-term measures. There is no medication available which will stop the progression of the cerebral artery narrowing, however, and the disease will continue to progress in the vast majority of patients regardless of treatment.

Surgical procedures are designed to reestablish blood supply to the brain by diverting scalp blood supply to the brain surface and thereby circumventing the progressive loss of brain hemisphere blood flow. There are many surgical procedures proposed to treat moyamoya, and they have been divided into so-called "indirect" and "direct" operations. Indirect procedures, usually carried out in children and younger patients, include pial synangiosis; encephalomyosynangiosis (EMS), encephaloduroarteriosynangiosis (EDAS), dural inversion, and other similar variants. These operations involve the placement of vascularized structures from the scalp and/or the membranes that surround the brain onto the brain surface, which in most moyamoya patients will induce the growth of new blood vessels into the brain. The most common direct procedure involves the direct suturing of a scalp blood vessel, the superficial temporal artery, to a middle cerebral artery branch on the brain surface. Long-term results following surgery of either type have been quite good, with long-term prevention of strokes seen in published series of both pediatric and adult patients.

Genetic counseling may be of benefit for patients and their families if they have a hereditary form of moyamoya syndrome.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Moyamoya syndrome

References

TEXTBOOKS
Scott RM. Moyamoya Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:559.

Fauci AS, et al., eds. Harrison's Principles of Internal Medicine, 14th Ed. New York, NY: McGraw-Hill, Inc; 1998:2342.

Bennett JC, Plum F. Eds. Cecil Textbook of Medicine. 20th ed. W.B. Saunders Co., Philadelphia, PA; 1996:888.

Behrman RE, Kliegman RM, Arvin AM. Eds. Nelson Textbook of Pediatrics. 15th ed. W.B. Saunders Company. Philadelphia, PA; 1996:1729.

Smith ER, Scott RM. On-line Textbook of Paediatric Neurosurgery: Moyamoya Syndrome. http://surgicalneurology.pbwiki.com/Moyamoya-Syndrome. 2007.

REVIEW ARTICLES
Scott RM, Smith ER. Medical progress: moyamoya disease and moyamoya syndrome. NEJM 2009 Mar; 360 (12): 1126-37

Jea A, Smith ER, Robertson R, Scott RM. Moyamoya syndrome associated with Down syndrome: outcome after surgical revascularization. Pediatrics 2005; 116: e694-701.

Smith ER, Scott RM, Progression of disease in unilateral moyamoya syndrome. Neurosurg Focus. 2008;24(2):E17

JOURNAL ARTICLES
Morioka M, Hamada J, Todaka T, et al. High-risk age for rebleeding in patients with hemorrhagic Moyamoya disease: long-term follow-up study. Neurosurgery. 2003;52:1049-55.

Oya S, Tsutsumi K, Ueki K. Adult-onset moyamoya disease with repetitive ischemic attacks successfully treated by superficial temporal-middle cerebral artery by-pass: case report. Neurol Med Chir (Tokyo). 2003;43:138-41.

Marioka M, Hamada J, KawanoT, et al. Angiographic dilatation and branch extension of the anterior choroidal and posterior communicating arteries are predictive of hemorrhage in adult moyamoya patients. Stroke. 2003;34:90-95.

Zafeiriou DI, et al. Familial moyamoya disease in a Greek family. Brain Dev. 2003;25:288-90.

Asumal KB, et al. Moyamoya disease: an elusive diagnosis. J Pak Med Assoc. 2003;53:160-2.

Scott RM, Smith JL, Robertson RL, Madsen JR, Soriano SG, Rockoff MA. Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis. J Neurosurg: Pediatrics 2004; 100: 142-149.

Dobson SR, Holden KR, Nietert PJ, et al. Moyamoya syndrome in childhood sickle cell disease: a predictive factor for recurrent cerebrovascular events. Blood. 2002;99:3144-50.

Soriano SG, Cowan DB, Proctor MR, et al. Levels of soluble adhesion molecules are elevated in the cerebrospinal fluid of children with moyamoya syndrome. Neurosurgery. 2002;50:54-49.

Isono M, Ishii K, Kamida T, et al. Long-term outcomes of pediatric moyamoya disease treated by encephalo-duro-arterio-synangiosis. Pediatr Neurosurg. 2002;36:14-21.

INTERNET
McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Moyamoya Disease. Entry Number; 252350: Last Edit Date;6/27/11 Available at: http://omim.org/entry/252350 Accessed on:January 13, 2012.

McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Moyamoya Disease 2. Entry Number; 607151: Last Edit Date:6/7/11. Available at: http://omim.org/entry/607151 Accesed on:January 13, 2012.

NINDS Moyamoya Disease Information Page. Reviewed 10/18/11.
www.ninds.nih.gov/health_and_medical/disorders/moyamoya.htm?format=printable Accessed on:January 13, 2012.

Sucholeiki R, Chawla J. Moyamoya Disease. eMedicine. Last Updated:March 23, 2011.
www.emedicine.com/neuro/topic616.htm Accessed on:January 13, 2012.

Childrens Hospital Boston, 2011. Moyamoya Disease. http://www.childrenshospital.org/az/Site1317/mainpageS1317P0.html Accessed on:January 13, 2012.

Report last updated: 2012/01/20 00:00:00 GMT+0