eMedicine Specialties > Neurology > Pediatric Neurology

Moyamoya Disease

Author: Roy Sucholeiki, MD, Director, Comprehensive Seizure and Epilepsy Program, The Neurosciences Institute at Central DuPage Hospital
Coauthor(s): Jasvinder Chawla, MBBS, MD, MBA, Associate Professor of Neurology, Director of Neurology Residency Training Program, Director of Clinical Neurophysiology Laboratory, Assistant Director of Neurology Clerkship Program, Department of Neurology, Loyola University Medical Center
Contributor Information and Disclosures

Updated: Nov 6, 2008

Introduction

Background

Moyamoya disease is a progressive occlusive disease of the cerebral vasculature with particular involvement of the circle of Willis and the arteries that feed it. Moyamoya (ie, Japanese for "puff of smoke") characterizes the appearance on angiography of abnormal vascular collateral networks that develop adjacent to the stenotic vessels. The steno-occlusive areas are usually bilateral, but unilateral involvement does not exclude the diagnosis.

Pathophysiology

Pathologically, moyamoya disease (MMD) is characterized by intimal thickening in the walls of the terminal portions of the internal carotid vessels bilaterally. The proliferating intima may contain lipid deposits. The anterior, middle, and posterior cerebral arteries that emanate from the circle of Willis may show varying degrees of stenosis or occlusion. This is associated with fibrocellular thickening of the intima, waving of the internal elastic lamina, and thinning of the media. Numerous small vascular channels can be seen around the circle of Willis. These are perforators and anastomotic branches. The pia mater also may have reticular conglomerates of small vessels.

The exact etiology of MMD is unknown. Some genetic predisposition is apparent because it is familial 10% of the time. The disease may be hereditary and multifactorial. A recent Japanese study demonstrated that familial MMD is autosomal dominant with reduced penetrance.

It may occur by itself in a previously healthy individual. However, many disease states have been reported in association with MMD, including the following:

These associations may not necessarily be causative, but do warrant consideration due to impact on treatment.

Frequency

United States

The incidence of moyamoya disease is highest in Japan (see International). However, a recent study indicated that the prevalence of MMD in California and Washington was 0.086 case per 100,000 population. In this study, the breakdown based on ethnicity as ratio to whites was 4.6 for Asian Americans, 2.2 for African Americans, and 0.5 for Hispanics.

International

The prevalence and incidence of moyamoya disease in Japan has been reported to be 3.16 cases and 0.35 case per 100,000 people, respectively. With regard to sex, the female-to-male ratio is 1.8:1. A bimodal peak of incidence is noted, with symptoms occurring either in the first decade or in the third and fourth decades of life.

Mortality/Morbidity

Mortality rates of moyamoya disease are approximately 10% in adults and 4.3% in children. Death is usually from hemorrhage. About 50-60% of affected individuals experience a gradual deterioration of cognitive function, presumably from recurrent strokes.

Race

Moyamoya disease occurs primarily in Asians, but it also can occur (with varying degrees of severity) in whites, African Americans, Haitians, and Hispanics.

Sex

The female-to-male ratio of moyamoya disease is 1.8:1.

Age

Ages range from 6 months to 67 years, with the highest peak in the first decade and smaller peaks in the third and fourth decades.

Clinical

History

Children and adults with moyamoya disease may have different clinical presentations. The symptoms and clinical course vary widely from asymptomatic to transient events to severe neurologic deficits. Adults experience hemorrhage more commonly; cerebral ischemic events are more common in children.

  • Children may have hemiparesis, monoparesis, sensory impairment, involuntary movements, headaches, dizziness, or seizures. Mental retardation or persistent neurologic deficits may be present.
  • Adults may have symptoms and signs similar to those in children, but intraventricular, subarachnoid, or intracerebral hemorrhage of sudden onset is more common in adults.

Physical

Examination findings depend on the location and severity of hemorrhage or ischemic insult.

Causes

The cause of moyamoya disease is not known. The disease is believed to be hereditary. Fukui (1977) reported a family history in 10% of patients with MMD. Moreover, Mineharu suggested that familial MMD is autosomal dominant with incomplete penetrance that depends on age and genomic imprinting factors.1 Genetically, susceptibility loci have been found on 3p, 6p, 17q, and band 8q23. Recently, Mineharu et al have found a specific gene locus, q25.3, on chromosome 17.2

More on Moyamoya Disease

Overview: Moyamoya Disease
Differential Diagnoses & Workup: Moyamoya Disease
Treatment & Medication: Moyamoya Disease
Follow-up: Moyamoya Disease
References
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References

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Further Reading

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Keywords

moyamoya disease, MMD, arterial occlusive disease, primary cerebral, puff of smoke, Graves disease, thyrotoxicosis, leptospirosis, tuberculosis, aplastic anemia, Fanconi anemia, sickle cell anemia, lupus anticoagulant, Apert syndrome, Down syndrome, Marfan syndrome, tuberous sclerosis, Turner syndrome, von Recklinghausen disease, Hirschsprung disease, atherosclerotic disease, coarctation of the aorta and fibromuscular dysplasia, cranial trauma, radiation injury, parasellar tumors, hypertension

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Contributor Information and Disclosures

Author

Roy Sucholeiki, MD, Director, Comprehensive Seizure and Epilepsy Program, The Neurosciences Institute at Central DuPage Hospital
Roy Sucholeiki, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, and American Neuropsychiatric Association
Disclosure: UCB Pharma Honoraria Speaking and teaching

Coauthor(s)

Jasvinder Chawla, MBBS, MD, MBA, Associate Professor of Neurology, Director of Neurology Residency Training Program, Director of Clinical Neurophysiology Laboratory, Assistant Director of Neurology Clerkship Program, Department of Neurology, Loyola University Medical Center
Jasvinder Chawla, MBBS, MD, MBA is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Clinical Neurophysiology Society, and American Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Robert Stanley Rust Jr, MD, MA, Thomas E Worrell Jr Professor of Epileptology and Neurology, Co-Director of FE Dreifuss Child Neurology and Epilepsy Clinics, Director, Child Neurology, University of Virginia; Chair-Elect, Child Neurology Section, American Academy of Neurology
Robert Stanley Rust Jr, MD, MA is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Headache Society, American Neurological Association, Child Neurology Society, International Child Neurology Association, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Neurology, Division of Pediatrics, Department of Pediatrics, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

 
 
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