eMedicine Specialties > Neurology > Pediatric Neurology

Moyamoya Disease: Differential Diagnoses & Workup

Author: Roy Sucholeiki, MD, Director, Comprehensive Seizure and Epilepsy Program, The Neurosciences Institute at Central DuPage Hospital
Coauthor(s): Jasvinder Chawla, MBBS, MD, MBA, Chief of Neurology, Hines Veterans Affairs Hospital; Associate Professor and Director, Neurology Residency Training Program, Loyola University Medical Center
Contributor Information and Disclosures

Updated: Dec 16, 2009

Differential Diagnoses

Anterior Circulation Stroke
Metabolic Disease & Stroke: Methylmalonic Acidemia
Basilar Artery Thrombosis
Metabolic Disease & Stroke: Propionic Acidemia
Blood Dyscrasias and Stroke
Neurofibromatosis, Type 1
Cavernous Sinus Syndromes
Neurofibromatosis, Type 2
Cerebral Aneurysms
Pituitary Tumors
Craniopharyngioma
Polyarteritis Nodosa
Dissection Syndromes
Posterior Cerebral Artery Stroke
Fibromuscular Dysplasia
Subarachnoid Hemorrhage
Intracranial Hemorrhage
Temporal/Giant Cell Arteritis
Metabolic Disease & Stroke: Fabry Disease
Tolosa-Hunt Syndrome
Metabolic Disease & Stroke: Homocystinuria/Homocysteinemia
Metabolic Disease & Stroke: Hyperglycemia/Hypoglycemia
Metabolic Disease & Stroke: MELAS

Other Problems to Be Considered

Apert syndrome
Aplastic anemia
Brainstem syndromes
Cranial trauma
Coarctation of the aorta
Fanconi anemia
Irradiation injury
Leptospirosis
Marfan syndrome
Mitochondrial cytopathies
Parasellar tumors
Sickle cell disease
Tuberculosis
Turner syndrome
Vasculitis
Carotid disease and stroke

Workup

Laboratory Studies

The following studies may be indicated in patients with moyamoya disease (MMD):

  • In a patient with stroke of unclear etiology, a hypercoagulability profile may be helpful. Significant abnormality in any of these is a risk factor for ischemic stroke.
    • Protein C
    • Protein S
    • Antithrombin III
    • Homocysteine
    • Factor V Leiden
  • Erythrocyte sedimentation rate (ESR) can be obtained as part of the initial workup of a possible vasculitis. However, a normal ESR does not rule out vasculitis.

Imaging Studies

  • Cerebral angiography is the criterion standard for diagnosis. 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 these findings on MRA may preclude the need for conventional angiography.

Histologic Findings

More on Moyamoya Disease

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

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Keywords

moyamoya disease, MMD, Graves disease, thyrotoxicosis, leptospirosis, tuberculosis, aplastic anemia, Fanconi anemia, sickle cell anemia, lupus anticoagulant, Apert syndrome, Down syndrome, Marfan syndrome, treatment, symptoms

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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, MBBS, MD, MBA, Chief of Neurology, Hines Veterans Affairs Hospital; Associate Professor and Director, Neurology Residency Training Program, 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: eMedicine Salary Employment

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.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Neurology, Department of Neurology, 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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