Moyamoya Disease Workup

  • Author: Roy Sucholeiki, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Jan 25, 2012
 

Approach Considerations

Misdiagnosis and delayed diagnosis of moyamoya disease are particular pitfalls in the treatment of patients with this disorder. Misdiagnosis can occur easily if the physician does not incorporate moyamoya disease into the differential diagnosis of any patient presenting with stroke. How high moyamoya disease is ranked in the differential depends on presence of atypical features such as young age and absence of obvious risk factors for stroke.

If moyamoya disease is not considered seriously, then appropriate diagnostic tests may not be performed and a delay in diagnosis could result. Because definitive treatment may be surgery, any delay could allow unnecessary progression of disease.

If an ischemic stroke that is being treated with antiplatelet agents or anticoagulants does not respond to therapy, then moyamoya disease should be considered as a possible etiology. This is especially true if results of a hypercoagulability profile are unremarkable.

Physicians practicing in the community who encounter atypical stroke presentations should not hesitate to seek consultation with a stroke specialist or even to transfer a patient to a facility equipped to care for complex cases.

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Laboratory Studies

Several studies may be indicated in patients with moyamoya disease. In a patient with stroke of unclear etiology, a hypercoagulability profile may be helpful. Significant abnormality in any of the following is a risk factor for ischemic stroke:

  • Protein C
  • Protein S
  • Antithrombin III
  • Homocysteine
  • Factor V Leiden

The erythrocyte sedimentation rate (ESR) can be obtained as part of the initial workup of possible vasculitis. However, a normal ESR does not rule out vasculitis.

Thyroid function and thyroid autoantibody levels have been shown to be elevated in a significant percentage of pediatric patients with moyamoya disease.[7] Therefore, monitoring these studies is indicated.

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Angiography

Cerebral angiography is the criterion standard for the diagnosis of moyamoya disease. The following findings support the diagnosis:

  • Stenosis or occlusion at the terminal portion of the internal carotid artery or the proximal portion of the anterior or middle cerebral arteries
  • Abnormal vascular networks in the vicinity of the occlusive or stenotic areas
  • Bilaterality of the described findings (although some patients may present with unilateral involvement and then progress)

Magnetic resonance angiography (MRA) can be performed. Any of the above findings on MRA may preclude the need for conventional angiography.

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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: Nothing to disclose.

Coauthor(s)

Jasvinder Chawla, MD, MBA  Chief of Neurology, Hines Veterans Affairs Hospital; Associate Professor and Director, Neurology Residency Training Program, Loyola University Medical Center

Jasvinder Chawla, 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.

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center

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.

Additional Contributors

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.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

References

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  4. Kim SJ, Heo KG, Shin HY, Bang OY, Kim GM, Chung CS. Association of thyroid autoantibodies with moyamoya-type cerebrovascular disease: a prospective study. Stroke. Jan 2010;41(1):173-6. [Medline].

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  8. Starke RM, Komotar RJ, Hickman ZL, et al. Clinical features, surgical treatment, and long-term outcome in adult patients with moyamoya disease. Clinical article. J Neurosurg. Nov 2009;111(5):936-42. [Medline].

  9. Fung LW, Thompson D, Ganesan V. Revascularisation surgery for paediatric moyamoya: a review of the literature. Childs Nerv Syst. May 2005;21(5):358-64. [Medline].

  10. Scott RM, Smith JL, Robertson RL, et al. Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis. J Neurosurg. Feb 2004;100(2 Suppl Pediatrics):142-9. [Medline].

  11. Hoffman HJ. Moyamoya disease and syndrome. Clin Neurol Neurosurg. Oct 1997;99 Suppl 2:S39-44. [Medline].

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  13. Gosalakkal JA. Moyamoya disease: a review. Neurol India. Mar 2002;50(1):6-10. [Medline].

 
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Schematic representation of the circle of Willis, arteries of the brain, and brain stem.
 
 
 
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