cerebrovascular diseases typically characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. (See 'Classification and terminology' above.) Moyamoya disease (MMD) refers to patients with moyamoya angiographic findings who may have genetic susceptibilities but no underlying risk factors. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 13/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate Moyamoya syndrome (MMS) refers to patients with moyamoya angiographic findings who also have an associated medical condition. (See 'Classification and terminology' above and 'Associated conditions' above.) Epidemiology MMD and MMS are rare. MMD is more common in East Asian countries than elsewhere. There is a bimodal distribution in the age of onset, with one peak at approximately 10 years of age and a second, broader peak at approximately 40 years of age. (See 'Incidence and prevalence' above.) Clinical presentations Ischemic stroke and transient ischemic attack (TIA) affecting the anterior circulation are the most common clinical presentations. (See 'Ischemic stroke and transient ischemic attack' above and 'Neuroimaging' above.) Intracranial hemorrhage is less common and is rare in children. Hemorrhage usually affects deep structures such as the basal ganglia or thalamus but may also be intraventricular or subarachnoid. (See 'Intracerebral, intraventricular, and subarachnoid hemorrhage' above and 'Neuroimaging' above.) Clinical and imaging findings suggestive of underlying moyamoya pathology MRI findings that suggest the diagnosis of moyamoya include dilated collateral vessels in the basal ganglia or thalamus, the "ivy sign," or the "brush sign." (See 'Neuroimaging' above.) The diagnosis of moyamoya is most often considered in those with suggestive MRI findings in the context of evaluation for ischemic stroke. Other settings in which the diagnosis should be considered include repeated episodes of ischemia in the same arterial territory, deep intracerebral hemorrhage in the absence of hypertension or other known cause, and ischemic or hemorrhagic stroke in children or young adults who lack cerebrovascular risk factors. (See 'Indications for vascular imaging' above.) Diagnosis The diagnosis of moyamoya is made by angiographic demonstration of bilateral stenoses affecting the distal internal carotid arteries or proximal circle of Willis vessels along with the presence of prominent basal collateral vessels. (See 'Diagnosis' above.) Use of UpToDate is subject to the Terms of Use. REFERENCES 1. Smith ER, Scott RM. Spontaneous occlusion of the circle of Willis in children: pediatric moyamoya summary with proposed evidence-based practice guidelines. A review. J https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 14/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate Neurosurg Pediatr 2012; 9:353. 2. Fukui M. Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis ('moyamoya' disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 1997; 99 Suppl 2:S238. 3. Arias EJ, Derdeyn CP, Dacey RG Jr, Zipfel GJ. Advances and surgical considerations in the treatment of moyamoya disease. Neurosurgery 2014; 74 Suppl 1:S116. 4. Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis, Health Labour Sciences Research Grant for Research on Measures for Infractable Diseases. Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis). Neurol Med Chir (Tokyo) 2012; 52:245. 5. Kim JS, Bang OY, Oh CW. Moyamoya disease. In: Uncommon Causes of Stroke, 3rd ed, Capla n L, Biller J (Eds), Cambridge University Press, New York, NY 2018. p.545. 6. Kamada F, Aoki Y, Narisawa A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 2011; 56:34. 7. Liu W, Morito D, Takashima S, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 2011; 6:e22542. 8. Miyatake S, Miyake N, Touho H, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology 2012; 78:803. 9. Yamauchi T, Tada M, Houkin K, et al. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 2000; 31:930. 10. Mineharu Y, Liu W, Inoue K, et al. Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology 2008; 70:2357. 11. Miyawaki S, Imai H, Takayanagi S, et al. Identification of a genetic variant common to moyamoya disease and intracranial major artery stenosis/occlusion. Stroke 2012; 43:3371. 12. Wu Z, Jiang H, Zhang L, et al. Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population. PLoS One 2012; 7:e48179. 13. Bang OY, Ryoo S, Kim SJ, et al. Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians? PLoS One 2015; 10:e0130663. 14. Wang Y, Zhang Z, Wei L, et al. Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease. Neurology 2020; 94:e678. 15. Ikeda H, Sasaki T, Yoshimoto T, et al. Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 1999; 64:533. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 15/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 16. Inoue TK, Ikezaki K, Sasazuki T, et al. Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol 2000; 15:179. 17. Sakurai K, Horiuchi Y, Ikeda H, et al. A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet 2004; 49:278. 18. 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; 77:1025. 19. Duan L, Wei L, Tian Y, et al. Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. Stroke 2018; 49:11. 20. Lee SJ, Ahn JY. Stenosis of the proximal external carotid artery in an adult with moyamoya disease: moyamoya or atherosclerotic change? Neurol Med Chir (Tokyo) 2007; 47:356. 21. Ullrich NJ, Robertson R, Kinnamon DD, et al. Moyamoya following cranial irradiation for primary brain tumors in children. Neurology 2007; 68:932. 22. Fernandez-Alvarez E, Pineda M, Royo C, Manzanares R. "Moya-moya' disease caused by cranial trauma. Brain Dev 1979; 1:133. 23. Kitano S, Sakamoto H, Fujitani K, Kobayashi Y. Moyamoya disease associated with a brain stem glioma. Childs Nerv Syst 2000; 16:251. 24. Arita K, Uozumi T, Oki S, et al. Moyamoya disease associated with pituitary adenoma report of two cases. Neurol Med Chir (Tokyo) 1992; 32:753. 25. Tsuji N, Kuriyama T, Iwamoto M, Shizuki K. Moyamoya disease associated with craniopharyngioma. Surg Neurol 1984; 21:588. 26. Czartoski T, Hallam D, Lacy JM, et al. Postinfectious vasculopathy with evolution to moyamoya syndrome. J Neurol Neurosurg Psychiatry 2005; 76:256. 27. Yamada H, Deguchi K, Tanigawara T, et al. The relationship between moyamoya disease and bacterial infection. Clin Neurol Neurosurg 1997; 99 Suppl 2:S221. 28. Sharfstein SR, Ahmed S, Islam MQ, et al. Case of moyamoya disease in a patient with advanced acquired immunodeficiency syndrome. J Stroke Cerebrovasc Dis 2007; 16:268. 29. Hammond CK, Shapson-Coe A, Govender R, et al. Moyamoya Syndrome in South African Children With HIV-1 Infection. J Child Neurol 2016; 31:1010. 30. Fryer RH, Anderson RC, Chiriboga CA, Feldstein NA. Sickle cell anemia with moyamoya disease: outcomes after EDAS procedure. Pediatr Neurol 2003; 29:124. 31. Dobson SR, Holden KR, Nietert PJ, et al. Moyamoya syndrome in childhood sickle cell disease: a predictive factor for recurrent cerebrovascular events. Blood 2002; 99:3144. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 16/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 32. Kirkham FJ, DeBaun MR. Stroke in Children with Sickle Cell Disease. Curr Treat Options Neurol 2004; 6:357. 33. Marden FA, Putman CM, Grant JM, Greenberg J. Moyamoya disease associated with hemoglobin Fairfax and beta-thalassemia. Pediatr Neurol 2008; 38:130. 34. Pavlakis SG, Verlander PC, Gould RJ, et al. Fanconi anemia and moyamoya: evidence for an association. Neurology 1995; 45:998. 35. Tokunaga Y, Ohga S, Suita S, et al. Moyamoya syndrome with spherocytosis: effect of splenectomy on strokes. Pediatr Neurol 2001; 25:75. 36. Cerrato P, Grasso M, Lentini A, et al. Atherosclerotic adult Moya-Moya disease in a patient with hyperhomocysteinaemia. Neurol Sci 2007; 28:45. 37. Dhopesh VP, Dunn DP, Schick P. Moyamoya and Hageman factor (Factor XII) deficiency in a black adult. Arch Neurol 1978; 35:396. 38. Kornblihtt LI, Cocorullo S, Miranda C, et al. Moyamoya syndrome in an adolescent with essential thrombocythemia: successful intracranial carotid stent placement. Stroke 2005; 36:E71. 39. Cheong PL, Lee WT, Liu HM, Lin KH. Moyamoya syndrome with inherited proteins C and S deficiency: report of one case. Acta Paediatr Taiwan 2005; 46:31. 40. Charuvanij A, Laothamatas J, Torcharus K, Sirivimonmas S. Moyamoya disease and protein S deficiency: a case report. Pediatr Neurol 1997; 17:171. 41. Cevik B, Acu B, Aksoy D, Kurt S. Protein S Deficiency and an Adult Case with Moyamoya Syndrome that Presented with Primary Intraventricular Haemorrhage. Balkan Med J 2014; 31:180. 42. Skardoutsou A, Voudris KA, Mastroyianni S, et al. Moya moya syndrome in a child with pyruvate kinase deficiency and combined prothrombotic factors. J Child Neurol 2007; 22:474. 43. Wang R, Xu Y, Lv R, Chen J. Systemic lupus erythematosus associated with Moyamoya syndrome: a case report and literature review. Lupus 2013; 22:629. 44. Kendall B. Cerebral angiography in vasculitis affecting the nervous system. Eur Neurol 1984; 23:400. 45. Sasaki T, Nogawa S, Amano T. Co-morbidity of moyamoya disease with Graves' disease. report of three cases and a review of the literature. Intern Med 2006; 45:649. 46. Im SH, Oh CW, Kwon OK, et al. Moyamoya disease associated with Graves disease: special considerations regarding clinical significance and management. J Neurosurg 2005; 102:1013. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 17/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 47. Kushima K, Satoh Y, Ban Y, et al. Graves' thyrotoxicosis and Moyamoya disease. Can J Neurol Sci 1991; 18:140. 48. Bower RS, Mallory GW, Nwojo M, et al. Moyamoya disease in a primarily white, midwestern US population: increased prevalence of autoimmune disease. Stroke 2013; 44:1997. 49. Carhuapoma JR, D'Olhaberriague L, Levine SR. Moyamoya syndrome associated with Sneddon's syndrome and antiphospholipid-protein antibodies. J Stroke Cerebrovasc Dis 1999; 8:51. 50. Bonduel M, Hepner M, Sciuccati G, et al. Prothrombotic disorders in children with moyamoya syndrome. Stroke 2001; 32:1786. 51. Provost TT, Moses H, Morris EL, et al. Cerebral vasculopathy associated with collateralization resembling moya moya phenomenon and with anti-Ro/SS-A and anti-La/SS-B antibodies. Arthritis Rheum 1991; 34:1052. 52. Kim JS, No YJ. Moyamoya-like vascular abnormality in pulmonary sarcoidosis. Cerebrovasc Dis 2006; 22:71. 53. Takenaka K, Ito M, Kumagai M, et al. Moyamoya disease associated with pulmonary sarcoidosis case report. Neurol Med Chir (Tokyo) 1998; 38:566. 54. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 2004; 109:1354. 55. Rocha R, Soro I, Leit o A, et al. Moyamoya vascular pattern in Alagille syndrome. Pediatr Neurol 2012; 47:125. 56. Jea A, Smith ER, Robertson R, Scott RM. Moyamoya syndrome associated with Down syndrome: outcome after surgical revascularization. Pediatrics 2005; 116:e694. 57. de Borchgrave V, Saussu F, Depre A, de Barsy T. Moyamoya disease and Down syndrome: case report and review of the literature. Acta Neurol Belg 2002; 102:63. 58. Rafay MF, Al-Futaisi A, Weiss S, Armstrong D. Hypomelanosis of Ito and Moyamoya disease. J Child Neurol 2005; 20:924. 59. Terada T, Yokote H, Tsuura M, et al. Marfan syndrome associated with moyamoya phenomenon and aortic dissection. Acta Neurochir (Wien) 1999; 141:663. 60. Teo M, Johnson JN, Bell-Stephens TE, et al. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. J Neurosurg Pediatr 2016; 25:717. 61. Herv D, Touraine P, Verloes A, et al. A hereditary moyamoya syndrome with multisystemic manifestations. Neurology 2010; 75:259. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 18/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 62. Miskinyte S, Butler MG, Herv D, et al. Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. Am J Hum Genet 2011; 88:718. 63. Khan M, Novakovic RL, Rosengart AJ. Intraventricular hemorrhage disclosing neurofibromatosis 1 and moyamoya phenomena. Arch Neurol 2006; 63:1653. 64. Horikawa M, Utunomiya H, Hirotaka S, et al. Case of von Recklinghausen disease associated with cerebral infarction. J Child Neurol 1997; 12:144. 65. Rosser TL, Vezina G, Packer RJ. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology 2005; 64:553. 66. Brosius SN, Vossough A, Fisher MJ, et al. Characteristics of Moyamoya Syndrome in Pediatric Patients With Neurofibromatosis Type 1. Pediatr Neurol 2022; 134:85. 67. Gupta M, Choudhri OA, Feroze AH, et al. Management of moyamoya syndrome in patients with Noonan syndrome. J Clin Neurosci 2016; 28:107. 68. Hung PC, Wang HS, Wong AM. Moyamoya syndrome in a child with Noonan syndrome. Pediatr Neurol 2011; 45:129. 69. Ganesan V, Kirkham FJ. Noonan syndrome and moyamoya. Pediatr Neurol 1997; 16:256. 70. Tsuruta D, Fukai K, Seto M, et al. Phakomatosis pigmentovascularis type IIIb associated with moyamoya disease. Pediatr Dermatol 1999; 16:35. 71. Kusuhara T, Ayabe M, Hino H, et al. [A case of Prader-Willi syndrome with bilateral middle cerebral artery occlusion and moyamoya phenomenon]. Rinsho Shinkeigaku 1996; 36:770. 72. Meyer S, Zanardo L, Kaminski WE, et al. Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease. Br J Dermatol 2005; 153:431. 73. Garcia JC, Roach ES, McLean WT. Recurrent thrombotic deterioration in the Sturge-Weber syndrome. Childs Brain 1981; 8:427. 74. Imaizumi M, Nukada T, Yoneda S, et al. Tuberous sclerosis with moyamoya disease. Case report. Med J Osaka Univ 1978; 28:345. 75. Spengos K, Kosmaidou-Aravidou Z, Tsivgoulis G, et al. Moyamoya syndrome in a Caucasian woman with Turner's syndrome. Eur J Neurol 2006; 13:e7. 76. Kawai M, Nishikawa T, Tanaka M, et al. An autopsied case of Williams syndrome complicated by moyamoya disease. Acta Paediatr Jpn 1993; 35:63. 77. Quah BL, Hamilton J, Blaser S, et al. Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for. Pediatr Radiol 2005; 35:525. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 19/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 78. Komiyama M, Yasui T, Sakamoto H, et al. Basal meningoencephalocele, anomaly of optic disc and panhypopituitarism in association with moyamoya disease. Pediatr Neurosurg 2000; 33:100. 79. Krishnan C, Roy A, Traboulsi E. Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease). Ophthalmic Genet 2000; 21:21. 80. Christiaens FJ, Van den Broeck LK, Christophe C, Dan B. Moyamoya disease (moyamoya syndrome) and coarctation of the aorta. Neuropediatrics 2000; 31:47. 81. Lutterman J, Scott M, Nass R, Geva T. Moyamoya syndrome associated with congenital heart disease. Pediatrics 1998; 101:57. 82. de Vries RR, Nikkels PG, van der Laag J, et al. Moyamoya and extracranial vascular involvement: fibromuscular dysplasia? A report of two children. Neuropediatrics 2003; 34:318. 83. Yamada I, Himeno Y, Matsushima Y, Shibuya H. Renal artery lesions in patients with moyamoya disease: angiographic findings. Stroke 2000; 31:733. 84. Sunder TR. Moyamoya disease in a patient with type I glycogenosis. Arch Neurol 1981; 38:251. 85. Gouti res F, Bourgeois M, Trioche P, et al. Moyamoya disease in a child with glycogen storage disease type Ia. Neuropediatrics 1997; 28:133. 86. Toku G, Minareci O, Yavuzer D, et al. Moya Moya syndrome in a child with hyperphosphatasia. Pediatr Int 1999; 41:399. 87. Lammie GA, Wardlaw J, Dennis M. Thrombo-embolic stroke, moya-moya phenomenon and primary oxalosis. Cerebrovasc Dis 1998; 8:45. 88. Pracyk JB, Massey JM. Moyamoya disease associated with polycystic kidney disease and eosinophilic granuloma. Stroke 1989; 20:1092. 89. Nzwalo H, Santos V, Gradil C, et al. Caucasian familial moyamoya syndrome with rare multisystemic malformations. Pediatr Neurol 2013; 48:240. 90. Peerless SJ. Risk factors of moyamoya disease in Canada and the USA. Clin Neurol Neurosurg 1997; 99 Suppl 2:S45. 91. Hosoda Y. Pathology of so-called "spontaneous occlusion of the circle of Willis". Pathol Annu 1984; 19 Pt 2:221. 92. Goldstein M, Hanquinet P, Couvreur Y. [A case of fibromuscular dysplasia in an unusual location]. Acta Chir Belg 1984; 84:345. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 20/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 93. Oka K, Yamashita M, Sadoshima S, Tanaka K. Cerebral haemorrhage in Moyamoya disease at autopsy. Virchows Arch A Pathol Anat Histol 1981; 392:247. 94. Carlson CB, Harvey FH, Loop J. Progressive alternating hemiplegia in early childhood and basal arterial stenosis and telangiectasia (moyamoya syndrome). Neurology 1973; 23:734. 95. Kodama N, Fujiwara S, Horie Y, et al. [Transdural anastomosis in moyamoya disease vault moyamoy (author's transl)]. No Shinkei Geka 1980; 8:729. 96. Kodama N, Suzuki J. Moyamoya disease associated with aneurysm. J Neurosurg 1978; 48:565. 97. Adams HP Jr, Kassell NF, Wisoff HS, Drake CG. Intracranial saccular aneurysm and moyamoya disease. Stroke 1979; 10:174. 98. Nagamine Y, Takahashi S, Sonobe M. Multiple intracranial aneurysms associated with moyamoya disease. Case report. J Neurosurg 1981; 54:673. 99. Yabumoto M, Funahashi K, Fujii T, et al. Moyamoya disease associated with intracranial aneurysms. Surg Neurol 1983; 20:20. 100. Konishi Y, Kadowaki C, Hara M, Takeuchi K. Aneurysms associated with moyamoya disease. Neurosurgery 1985; 16:484. 101. Herreman F, Nathal E, Yasui N, et al. Intracranial aneurysm in moyamoya disease: report of ten cases and review of the literature. Cerebrovasc Dis 1994; 4:329. 102. Ikeda E. Systemic vascular changes in spontaneous occlusion of the circle of Willis. Stroke 1991; 22:1358. 103. Watanabe Y, Todani T, Fujii T, et al. Wilms' tumor associated with Moyamoya disease: a case report. Z Kinderchir 1985; 40:114. 104. Ihara M, Yamamoto Y, Hattori Y, et al. Moyamoya disease: diagnosis and interventions. Lancet Neurol 2022; 21:747. 105. Rafat N, Beck GCh, Pe a-Tapia PG, et al. Increased levels of circulating endothelial progenitor cells in patients with Moyamoya disease. Stroke 2009; 40:432. 106. Choi JW, Son SM, Mook-Jung I, et al. Mitochondrial abnormalities related to the dysfunction of circulating endothelial colony-forming cells in moyamoya disease. J Neurosurg 2018; 129:1151. 107. Kang HS, Kim JH, Phi JH, et al. Plasma matrix metalloproteinases, cytokines and angiogenic factors in moyamoya disease. J Neurol Neurosurg Psychiatry 2010; 81:673. 108. Suzui H, Hoshimaru M, Takahashi JA, et al. Immunohistochemical reactions for fibroblast growth factor receptor in arteries of patients with moyamoya disease. Neurosurgery 1994; 35:20. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 21/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 109. Malek AM, Connors S, Robertson RL, et al. Elevation of cerebrospinal fluid levels of basic fibroblast growth factor in moyamoya and central nervous system disorders. Pediatr Neurosurg 1997; 27:182. 110. Yamamoto M, Aoyagi M, Tajima S, et al. Increase in elastin gene expression and protein synthesis in arterial smooth muscle cells derived from patients with Moyamoya disease. Stroke 1997; 28:1733. 111. Hojo M, Hoshimaru M, Miyamoto S, et al. Role of transforming growth factor-beta1 in the pathogenesis of moyamoya disease. J Neurosurg 1998; 89:623. 112. Nanba R, Kuroda S, Ishikawa T, et al. Increased expression of hepatocyte growth factor in cerebrospinal fluid and intracranial artery in moyamoya disease. Stroke 2004; 35:2837. 113. Morgenlander JC, Goldstein LB. Recurrent transient ischemic attacks and stroke in association with an internal carotid artery web. Stroke 1991; 22:94. 114. Guey S, Tournier-Lasserve E, Herv D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. Appl Clin Genet 2015; 8:49. 115. Smith ER, Scott RM. Progression of disease in unilateral moyamoya syndrome. Neurosurg Focus 2008; 24:E17. 116. Church EW, Bell-Stephens TE, Bigder MG, et al. Clinical Course of Unilateral Moyamoya Disease. Neurosurgery 2020; 87:1262. 117. Yamashita M, Oka K, Tanaka K. Histopathology of the brain vascular network in moyamoya disease. Stroke 1983; 14:50. 118. Hosoda Y, Ikeda E, Hirose S. Histopathological studies on spontaneous occlusion of the circle of Willis (cerebrovascular moyamoya disease). Clin Neurol Neurosurg 1997; 99 Suppl 2:S203. 119. Takagi Y, Kikuta K, Nozaki K, Hashimoto N. Histological features of middle cerebral arteries from patients treated for Moyamoya disease. Neurol Med Chir (Tokyo) 2007; 47:1. 120. Kawaguchi S, Sakaki T, Morimoto T, et al. Characteristics of intracranial aneurysms associated with moyamoya disease. A review of 111 cases. Acta Neurochir (Wien) 1996; 138:1287. 121. Togao O, Mihara F, Yoshiura T, et al. Prevalence of stenoocclusive lesions in the renal and abdominal arteries in moyamoya disease. AJR Am J Roentgenol 2004; 183:119. 122. Goto Y, Yonekawa Y. Worldwide distribution of moyamoya disease. Neurol Med Chir (Tokyo) 1992; 32:883. 123. Uchino K, Johnston SC, Becker KJ, Tirschwell DL. Moyamoya disease in Washington State and California. Neurology 2005; 65:956. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 22/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 124. Wakai K, Tamakoshi A, Ikezaki K, et al. Epidemiological features of moyamoya disease in Japan: findings from a nationwide survey. Clin Neurol Neurosurg 1997; 99 Suppl 2:S1. 125. Kuriyama S, Kusaka Y, Fujimura M, et al. Prevalence and clinicoepidemiological features of moyamoya disease in Japan: findings from a nationwide epidemiological survey. Stroke 2008; 39:42. 126. Baba T, Houkin K, Kuroda S. Novel epidemiological features of moyamoya disease. J Neurol Neurosurg Psychiatry 2008; 79:900. 127. Sato Y, Kazumata K, Nakatani E, et al. Characteristics of Moyamoya Disease Based on National Registry Data in Japan. Stroke 2019; 50:1973. 128. Starke RM, Crowley RW, Maltenfort M, et al. Moyamoya disorder in the United States. Neurosurgery 2012; 71:93. 129. Hayashi K, Horie N, Izumo T, Nagata I. Nationwide survey on quasi-moyamoya disease in Japan. Acta Neurochir (Wien) 2014; 156:935. 130. Zhao M, Lin Z, Deng X, et al. Clinical Characteristics and Natural History of Quasi-Moyamoya Disease. J Stroke Cerebrovasc Dis 2017; 26:1088. 131. Amlie-Lefond C, Zaidat OO, Lew SM. Moyamoya disease in early infancy: case report and literature review. Pediatr Neurol 2011; 44:299. 132. Al-Yassin A, Saunders DE, Mackay MT, Ganesan V. Early-onset bilateral cerebral arteriopathies: Cohort study of phenotype and disease course. Neurology 2015; 85:1146. 133. Duan L, Bao XY, Yang WZ, et al. Moyamoya disease in China: its clinical features and outcomes. Stroke 2012; 43:56. 134. Lee S, Rivkin MJ, Kirton A, et al. Moyamoya Disease in Children: Results From the International Pediatric Stroke Study. J Child Neurol 2017; 32:924. 135. Kleinloog R, Regli L, Rinkel GJ, Klijn CJ. Regional differences in incidence and patient characteristics of moyamoya disease: a systematic review. J Neurol Neurosurg Psychiatry 2012; 83:531. 136. Kraemer M, Heienbrok W, Berlit P. Moyamoya disease in Europeans. Stroke 2008; 39:3193. 137. Zafar SF, Bershad EM, Gildersleeve KL, et al. Adult moyamoya disease in an urban center in the United States is associated with a high burden of watershed ischemia. J Am Heart Assoc 2014; 3. 138. Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome. N Engl J Med 2009; 360:1226. 139. Hung CC, Tu YK, Su CF, et al. Epidemiological study of moyamoya disease in Taiwan. Clin Neurol Neurosurg 1997; 99 Suppl 2:S23. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 23/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 140. Battistella PA, Carollo C. Clinical and neuroradiological findings of moyamoya disease in Italy. Clin Neurol Neurosurg 1997; 99 Suppl 2:S54. 141. Choi JU, Kim DS, Kim EY, Lee KC. Natural history of moyamoya disease: comparison of activity of daily living in surgery and non surgery groups. Clin Neurol Neurosurg 1997; 99 Suppl 2:S11. 142. Kitamura K, Fukui M, Oka K. Moyamoya disease. In: Handbook of Clinical Neurology, Elsevie r, Amsterdam, 1989. Vol 2, p.293. 143. Nah HW, Kwon SU, Kang DW, et al. Moyamoya disease-related versus primary intracerebral hemorrhage: [corrected] location and outcomes are different. Stroke 2012; 43:1947. 144. Wan M, Han C, Xian P, et al. Moyamoya disease presenting with subarachnoid hemorrhage: Clinical features and neuroimaging of a case series. Br J Neurosurg 2015; 29:804. 145. Kim JS. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis. J Stroke 2016; 18:2. 146. Seol HJ, Wang KC, Kim SK, et al. Headache in pediatric moyamoya disease: review of 204 consecutive cases. J Neurosurg 2005; 103:439. 147. Kraemer M, Lee SI, Ayzenberg I, et al. Headache in Caucasian patients with Moyamoya angiopathy - a systematic cohort study. Cephalalgia 2017; 37:496. 148. Chiang CC, Shahid AH, Harriott AM, et al. Evaluation and treatment of headache associated with moyamoya disease - a narrative review. Cephalalgia 2022; 42:542. 149. Li JY, Lai PH, Peng NJ. Moyamoya disease presenting with hemichoreoathetosis and hemidystonia. Mov Disord 2007; 22:1983. 150. Kim YO, Kim TS, Woo YJ, et al. Moyamoya disease-induced hemichorea corrected by indirect bypass surgery. Pediatr Int 2006; 48:504. 151. Baik JS, Lee MS. Movement disorders associated with moyamoya disease: a report of 4 new cases and a review of literatures. Mov Disord 2010; 25:1482. 152. Lin N, Baird L, Koss M, et al. Discovery of asymptomatic moyamoya arteriopathy in pediatric syndromic populations: radiographic and clinical progression. Neurosurg Focus 2011; 31:E6. 153. Kuroda S, Hashimoto N, Yoshimoto T, et al. Radiological findings, clinical course, and outcome in asymptomatic moyamoya disease: results of multicenter survey in Japan. Stroke 2007; 38:1430. 154. Yamada M, Fujii K, Fukui M. [Clinical features and outcomes in patients with asymptomatic moyamoya disease from the results of nation-wide questionnaire survey]. No Shinkei Geka 2005; 33:337. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 24/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 155. Rafay MF, Armstrong D, Dirks P, et al. Patterns of cerebral ischemia in children with moyamoya. Pediatr Neurol 2015; 52:65. 156. Kim JM, Lee SH, Roh JK. Changing ischaemic lesion patterns in adult moyamoya disease. J Neurol Neurosurg Psychiatry 2009; 80:36. 157. Takahashi M, Miyauchi T, Kowada M. Computed tomography of Moyamoya disease: demonstration of occluded arteries and collateral vessels as important diagnostic signs. Radiology 1980; 134:671. 158. Handa J, Nakano Y, Okuno T, et al. Computerized tomography in Moyamoya syndrome. Surg Neurol 1977; 7:315. 159. Kikuta K, Takagi Y, Nozaki K, et al. Asymptomatic microbleeds in moyamoya disease: T2*- weighted gradient-echo magnetic resonance imaging study. J Neurosurg 2005; 102:470. 160. Kikuta K, Takagi Y, Nozaki K, et al. The presence of multiple microbleeds as a predictor of subsequent cerebral hemorrhage in patients with moyamoya disease. Neurosurgery 2008; 62:104. 161. Kuroda S, Kashiwazaki D, Ishikawa T, et al. Incidence, locations, and longitudinal course of silent microbleeds in moyamoya disease: a prospective T2*-weighted MRI study. Stroke 2013; 44:516. 162. Roach ES, Golomb MR, Adams R, et al. Management of stroke in infants and children: a scientific statement from a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young. Stroke 2008; 39:2644. 163. Ohta T, Tanaka H, Kuroiwa T. Diffuse leptomeningeal enhancement, "ivy sign," in magnetic resonance images of moyamoya disease in childhood: case report. Neurosurgery 1995; 37:1009. 164. Maeda M, Tsuchida C. "Ivy sign" on fluid-attenuated inversion-recovery images in childhood moyamoya disease. AJNR Am J Neuroradiol 1999; 20:1836. 165. Chung PW, Park KY. Leptomeningeal enhancement in petients with moyamoya disease: correlation with perfusion imaging. Neurology 2009; 72:1872. 166. Mori N, Mugikura S, Higano S, et al. The leptomeningeal "ivy sign" on fluid-attenuated inversion recovery MR imaging in Moyamoya disease: a sign of decreased cerebral vascular reserve? AJNR Am J Neuroradiol 2009; 30:930. 167. Azizyan A, Sanossian N, Mogensen MA, Liebeskind DS. Fluid-attenuated inversion recovery vascular hyperintensities: an important imaging marker for cerebrovascular disease. AJNR Am J Neuroradiol 2011; 32:1771. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 25/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 168. Horie N, Morikawa M, Nozaki A, et al. "Brush Sign" on susceptibility-weighted MR imaging indicates the severity of moyamoya disease. AJNR Am J Neuroradiol 2011; 32:1697. 169. Yu X, Yuan L, Jackson A, et al. Prominence of Medullary Veins on Susceptibility-Weighted Images Provides Prognostic Information in Patients with Subacute Stroke. AJNR Am J Neuroradiol 2016; 37:423. 170. Muraoka S, Araki Y, Taoka T, et al. Prediction of Intracranial Arterial Stenosis Progression in Patients with Moyamoya Vasculopathy: Contrast-Enhanced High-Resolution Magnetic Resonance Vessel Wall Imaging. World Neurosurg 2018; 116:e1114. 171. Ryoo S, Cha J, Kim SJ, et al. High-resolution magnetic resonance wall imaging findings of Moyamoya disease. Stroke 2014; 45:2457. 172. Kodama N, Aoki Y, Hiraga H, et al. Electroencephalographic findings in children with moyamoya disease. Arch Neurol 1979; 36:16. 173. Cho A, Chae JH, Kim HM, et al. Electroencephalography in pediatric moyamoya disease: reappraisal of clinical value. Childs Nerv Syst 2014; 30:449. 174. Frechette ES, Bell-Stephens TE, Steinberg GK, Fisher RS. Electroencephalographic features of moyamoya in adults. Clin Neurophysiol 2015; 126:481. 175. Smith ER. Moyamoya arteriopathy. Curr Treat Options Neurol 2012; 14:549. 176. Kim HY, Chung CS, Lee J, et al. Hyperventilation-induced limb shaking TIA in Moyamoya disease. Neurology 2003; 60:137. 177. Spengos K, Tsivgoulis G, Toulas P, et al. Hyperventilation-enhanced chorea as a transient ischaemic phenomenon in a patient with moyamoya disease. Eur Neurol 2004; 51:172. 178. Bakdash T, Cohen AR, Hempel JM, et al. Moyamoya, dystonia during hyperventilation, and antiphospholipid antibodies. Pediatr Neurol 2002; 26:157. 179. Tsuchiya K, Makita K, Furui S. Moyamoya disease: diagnosis with three-dimensional CT angiography. Neuroradiology 1994; 36:432. 180. Hasuo K, Mihara F, Matsushima T. MRI and MR angiography in moyamoya disease. J Magn Reson Imaging 1998; 8:762. 181. Yamada I, Nakagawa T, Matsushima Y, Shibuya H. High-resolution turbo magnetic resonance angiography for diagnosis of Moyamoya disease. Stroke 2001; 32:1825. 182. Suzuki J, Kodama N. Moyamoya disease a review. Stroke 1983; 14:104. 183. Suzuki J, Takaku A. Cerebrovascular "moyamoya" disease. Disease showing abnormal net- like vessels in base of brain. Arch Neurol 1969; 20:288. Topic 1131 Version 41.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 26/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate GRAPHICS 40-year-old with moyamoya disease Digital subtraction angiogram shows stenosis of right supraclinoid carotid, proximal middle cerebral artery a artery (oval), and lenticulostriate moyamoya collateral vessels (arrows). Courtesy of Glenn A Tung, MD, FACR. Graphic 129102 Version 2.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 27/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate Morning glory disc anomaly The disc is large and there is a central, white tuft of glial tissue. The retinal vessels proceed radially from the disc. Courtesy of Karl C Golnik, MD. Graphic 55325 Version 2.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 28/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 9-year-old with unilateral moyamoya disease Digital subtraction angiogram shows stenosis of right supraclinoid and proximal middle cerebral arteries (cir lenticulostriate moyamoya collateral vessels (arrows). Courtesy of Glenn A Tung, MD, FACR. Graphic 129103 Version 2.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 29/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate Aneurysm in moyamoya disease Cerebral angiogram showing aneurysm (arrow) in patient with moyamoya disease. Courtesy of Nijasri Suwanwela, MD. Graphic 64850 Version 4.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 30/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 9-year-old male with moyamoya disease who presented with repeated episodes of transient left hemiparesis (A) Noncontrast head CT scan shows low-density area of infarction in the right basal ganglia (arrow). (B) MRI FLAIR image depicting a high-signal-intensity area in the right basal ganglia and multiple small hyperintense areas in both basal ganglia consistent with infarction. (C, D) Selective intra-arterial DSA (anteroposterior projection) shows severe stenoses of the distal right and left internal carotid arteries. Abnormal network of blood vessels (puff of smoke or moyamoya vessels) in the vicinity of the stenotic areas were noted (arrows). CT: computed tomography; MRI: magnetic resonance imaging; FLAIR: fluid-attenuated inversion recovery; DSA: digital subtraction angiogram. Courtesy of Nijasri Suwanwela, MD. Graphic 74421 Version 8.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 31/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 54-year-old with moyamoya disease T2-weighted sequence on magnetic resonance imaging shows lenticulostriate moyamoya collateral vessels on right (arrow). Courtesy of Glenn A Tung, MD, FACR. Graphic 129104 Version 2.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 32/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate 40-year-old with moyamoya disease "ivy sign" Fluid-attenuated inversion recovery sequence magnetic resonance imaging shows linear and curvilinear hyperintensities in the cerebral sulci consistent with "ivy sign" (arrows). Courtesy of Glenn A Tung, MD, FACR. Graphic 129105 Version 2.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 33/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate Moyamoya disease "brush sign" The conspicuity of multiple deep medullary veins on susceptibility- weighted imaging sequence (oval) from reduced oxygen supply relative to tissue demand resulting in an increase in the concentration of deoxyhemoglobin in venous blood. Republished with permission of the American Society of Neuroradiology, from: Horie N, Morikawa M, Nozaki A, et al. "Brush sign" on susceptibility-weighted MR imaging indicates the severity of moyamoya disease. Am J Neurorad 2011; 32:1697; permission conveyed through Copyright Clearance Center, Inc. Copyright 2011. https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 34/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate Graphic 129106 Version 2.0 https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print 35/39 7/6/23, 12:31 PM Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis - UpToDate Intracerebral hemorrhage with intraventricular hemorrhage due to moyamoya syndrome