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, 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

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

  • 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

See Pathophysiology.

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

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

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

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

  4. Ajimi Y, Uchida K, Kawase T, Toya S. [A case of Turner's syndrome associated with moyamoya disease]. No Shinkei Geka. Sep 1992;20(9):1021-4. [Medline].

  5. Baltaxe HA, Bloch S, Mooring PK. Coarctation of the thoracic aorta associated with cerebral arterial occlusive disease. AJR Am J Roentgenol. Dec 1982;139(6):1226-9. [Medline].

  6. Cheng MK. A review of cerebrovascular surgery in the People's Republic of China. Stroke. Mar-Apr 1982;13(2):249-55. [Medline].

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

  8. Ellison PH, Largent JA, Popp AJ. Moya-moya disease associated with renal artery stenosis. Arch Neurol. Jul 1981;38(7):467. [Medline].

  9. Fernandez-Alvarez E, Pineda M, Royo C, Manzanares R. "Moya-moya' disease caused by cranial trauma. Brain Dev. 1979;1(2):133-8. [Medline].

  10. Fukuyama Y, Osawa M, Kanai N. Moyamoya disease (syndrome) and the Down syndrome [comment]. Brain Dev. Jul 1992;14(4):254-6. [Medline].

  11. 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].

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

  13. Hamada J, Gotoh F, Fukuchi Y. Cerebral infarction with a lupus anticoagulant. A case report. Neurol Med. 1987;26:169-74.

  14. Hart RG, Miller VT, Coull BM, Bril V. Cerebral infarction associated with lupus anticoagulants--preliminary report. Stroke. Jan-Feb 1984;15(1):114-8. [Medline].

  15. Hilal SK, Solomon GE, Gold AP, Carter S. Primary cerebral arterial occlusive disease in children. II. Neurocutaneous syndromes. Radiology. Apr 1971;99(1):87-94. [Medline].

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

  17. Imaizumi M, Nukada T, Yoneda S, et al. Tuberous sclerosis with moyamoya disease. Case report. Med J Osaka Univ. Mar 1978;28(3-4):345-53. [Medline].

  18. Karasawa J, Kikuchi H, Furuse S, et al. Treatment of moyamoya disease with STA-MCA anastomosis. A anastomosis. Nov 1978;49(5):679-88. [Medline].

  19. Karasawa J, Touho H, Ohnishi H, et al. Cerebral revascularization using omental transplantation for childhood moyamoya disease. J Neurosurg. Aug 1993;79(2):192-6. [Medline].

  20. Kestle JR, Hoffman HJ, Mock AR. Moyamoya phenomenon after radiation for optic glioma. J Neurosurg. Jul 1993;79(1):32-5. [Medline].

  21. Kinugasa K, Mandai S, Kamata I, et al. Surgical treatment of moyamoya disease: operative technique for encephalo-duro-arterio-myo-synangiosis, its follow-up, clinical results, and angiograms. Neurosurgery. Apr 1993;32(4):527-31. [Medline].

  22. Kitahara T, Ariga N, Yamaura A, et al. Familial occurrence of moya-moya disease: report of three Japanese families. J Neurol Neurosurg Psychiatry. Mar 1979;42(3):208-14. [Medline].

  23. Kitamura K, Fukui M, Oka K. Moyamoya disease. In: Handbook of Clinical Neurology. Vol 2. Amsterdam: Elsevier; 1989:293-306.

  24. Lamas E, Diez Lobato R, Cabello A, Abad JM. Multiple intracranial arterial occlusions (moyamoya disease) in patients with neurofibromatosis. One case report with autopsy. Acta Neurochir (Wien). 1978;45(1-2):133-45. [Medline].

  25. Landi G, Calloni MV, Grazia Sabbadini M, et al. Recurrent ischemic attacks in two young adults with lupus anticoagulant. Stroke. May-Jun 1983;14(3):377-9. [Medline].

  26. Mathew NT, Abraham J, Chandy J. Cerebral angiographic features in tuberculous meningitis. Neurology. Oct 1970;20(10):1015-23. [Medline].

  27. Matsushima Y, Inaba Y. Moyamoya disease in children and its surgical treatment. Introduction of a new surgical procedure and its follow-up angiograms. Childs Brain. 1984;11(3):155-70. [Medline].

  28. Merkel KH, Ginsberg PL, Parker JC Jr, Post MJ. Cerebrovascular disease in sickle cell anemia: a clinical, pathological and radiological correlation. Stroke. Jan-Feb 1978;9(1):45-52. [Medline].

  29. Momose KJ, New PF. Non-atheromatous stenosis and occlusion of the internal carotid artery and its main branches. Am J Roentgenol Radium Ther Nucl Med. Jul 1973;118(3):550-66. [Medline].

  30. Nakashima H, Meguro T, Kawada S, et al. Long-term results of surgically treated moyamoya disease. Clin Neurol Neurosurg. Oct 1997;99 Suppl 2:S156-61. [Medline].

  31. Numaguchi Y, Gonzalez CF, Davis PC, et al. Moyamoya disease in the United States. Clin Neurol Neurosurg. Oct 1997;99 Suppl 2:S26-30. [Medline].

  32. Pearson E, Lenn NJ, Cail WS. Moyamoya and other causes of stroke in patients with Down syndrome. Pediatr Neurol. May-Jun 1985;1(3):174-9. [Medline].

  33. Saito N, Nakagawara J, Nakamura H, Teramoto A. Assessment of cerebral hemodynamics in childhood moyamoya disease using a quantitative and a semiquantitative IMP-SPECT study. Ann Nucl Med. Jun 2004;18(4):323-31. [Medline].

  34. Sakurai K, Horiuchi Y, Ikeda H, et al. A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet. 2004;49(5):278-81. [Medline].

  35. Satoh S, Shibuya H, Matsushima Y, Suzuki S. Analysis of the angiographic findings in cases of childhood moyamoya disease. Neuroradiology. 1988;30(2):111-9. [Medline].

  36. 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].

  37. Seeler RA, Royal JE, Powe L, Goldberg HR. Moyamoya in children with sickle cell anemia and cerebrovascular occlusion. J Pediatr. Nov 1978;93(5):808-10. [Medline].

  38. Servo A, Puranen M. Moyamoya syndrome as a complication of radiation therapy. Case report. J Neurosurg. Jun 1978;48(6):1026-9. [Medline].

  39. Sogaard I, Jorgensen J. Familial occurrence of bilateral intracranial occlusion of the internal carotid arteries (Moya Moya). Acta Neurochir (Wien). 1975;31(3-4):245-52. [Medline].

  40. Steinke W, Tatemichi TK, Mohr JP, et al. Caudate hemorrhage with moyamoya-like vasculopathy from atherosclerotic disease. Stroke. Sep 1992;23(9):1360-3. [Medline].

  41. Suzuki J, Kodama N. Moyamoya disease: The disorder and surgical treatment. Mayo Clin Proc. 1983;69:749-57.

  42. Takanashi J, Sugita K, Ishii M, et al. Moyamoya syndrome in young children: MR comparison with adult onset. AJNR Am J Neuroradiol. Sep-Oct 1993;14(5):1139-43. [Medline].

  43. Tomura N, Inugami A, Higano S, et al. [Cases similar to cerebrovascular moyamoya disease--investigation by angiography and computed tomography]. No To Shinkei. Oct 1988;40(10):905-12. [Medline].

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

  45. Umezu R, Fujiu M, Abe T. [Two cases of von Recklinghausen's disease with juxta-basal telangiactasia]. Rinsho Shinkeigaku. Jan 1973;13(1):11-6. [Medline].

  46. Wen HL, Mehal ZD, Kwok JCK. Moyamoya disease in Hong Kong. Adv Surg Cerebral Stroke. 1988;115-21.

  47. Wetjen NM, Garell C, Stence NV. Moyamoya disease in the midwestern United States. Neurosurg Focus. 1998;5.

  48. Yamada H, Nakamura S, Kageyama N. Moyamoya disease in monovular twins: case report. J Neurosurg. Jul 1980;53(1):109-12. [Medline].

  49. Yamada I, Suzuki S, Matsushima Y. Moyamoya disease: comparison of assessment with MR angiography and MR imaging versus conventional angiography. Radiology. Jul 1995;196(1):211-8. [Medline].

  50. Yamashita M, Tanaka K, Kishikawa T, Yokota K. Moyamoya disease associated with renovascular hypertension. Hum Pathol. Feb 1984;15(2):191-3. [Medline].

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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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