Medscape is available in 5 Language Editions – Choose your Edition here.


Moyamoya Disease Differential Diagnoses

  • Author: Roy Sucholeiki, MD; Chief Editor: Amy Kao, MD  more...
Updated: Apr 15, 2016

Diagnostic Considerations

Conditions to consider in the differential diagnosis of causes of or associations with moyamoya syndrome include the following:

  • Homocystinuria/homocysteinemia
  • Hyperglycemia/hypoglycemia
  • Syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
  • Methylmalonic acidemia
  • Propionic acidemia
  • Neurofibromatosis, type 1
  • Neurofibromatosis, type 2
  • Pituitary tumors
  • Polyarteritis nodosa
  • Posterior cerebral artery stroke
  • Subarachnoid hemorrhage
  • Temporal/giant cell arteritis
  • Tolosa-Hunt syndrome
  • 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

Differential Diagnoses

Contributor Information and Disclosures

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 Neuropsychiatric Association, American Epilepsy Society

Disclosure: Nothing to disclose.


Jasvinder Chawla, MD, MBA Chief of Neurology, Hines Veterans Affairs Hospital; Professor of Neurology, 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, 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 Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.


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

  1. Janda PH, Bellew JG, Veerappan V. Moyamoya disease: case report and literature review. J Am Osteopath Assoc. 2009 Oct. 109(10):547-53. [Medline].

  2. Mineharu Y, Takenaka K, Yamakawa H, et al. Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. J Neurol Neurosurg Psychiatry. 2006 Sep. 77(9):1025-9. [Medline].

  3. Mineharu Y, Liu W, Inoue K, Matsuura N, Inoue S, Takenaka K. Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology. 2008 Jun 10. 70(24 Pt 2):2357-63. [Medline].

  4. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011 Jan. 56(1):34-40. [Medline].

  5. Ma J, Liu Y, Ma L, Huang S, Li H, You C. RNF213 polymorphism and Moyamoya disease: A systematic review and meta-analysis. Neurol India. 2013 Jan-Feb. 61(1):35-9. [Medline].

  6. 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. 2010 Jan. 41(1):173-6. [Medline].

  7. Im SH, Oh CW, Kwon OK, et al. Moyamoya disease associated with Graves disease: special considerations regarding clinical significance and management. J Neurosurg. 2005 Jun. 102(6):1013-7. [Medline].

  8. Uchino K, Johnson A, Claiborne S, Tirschwell DL. Moyamoya disease in Washington State and California. Neurology. 2005. 65:956-958. [Medline].

  9. Kim JS. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis. J Stroke. 2016 Jan. 18 (1):2-11. [Medline].

  10. Li H, Zhang ZS, Dong ZN, et al. Increased Thyroid Function and Elevated Thyroid Autoantibodies in Pediatric Patients With Moyamoya Disease: A Case-Control Study. Stroke. 2011 Feb 24. [Medline].

  11. Kim T, Oh CW, Bang JS, Kim JE, Cho WS. Moyamoya Disease: Treatment and Outcomes. J Stroke. 2016 Jan. 18 (1):21-30. [Medline].

  12. 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. 2009 Nov. 111(5):936-42. [Medline]. [Full Text].

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

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

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

  16. Cohen N, Berant M, Simon J. Moyamoya and Fanconi's anemia. Pediatrics. 1980 Apr. 65(4):804-5. [Medline].

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

Schematic representation of the circle of Willis, arteries of the brain, and brain stem.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.