Moyamoya disease Moyamoya syndrome

1. Ade Wijaya, MD – February 2019

2.  Introduction
 Terminology
 Epidemiology
 Etiology
 Pathophysiology
 Clinical presentation
 Diagnosis
 Treatment
 Summary

3.  Moyamoya cerebral angiopathy
 This angiopathy was first described in Japan in 1957, and was called “moyamoya
disease” for the first time by Suzuki and Takaku in 1969
 A progressive stenosis or occlusion of the intracranial internal carotid artery (ICA)
and/or the proximal portion of the anterior cerebral artery (ACA) and middle
cerebral artery (MCA)
 This steno-occlusive pattern is associated with a compensatory development of a
collateral network of vessels at the base of the brain, appearing as a “puff of
smoke” on conventional angiography (“moyamoya” in Japanese)
 Moyamoya angiopathy increases the risk of ischemic and hemorrhagic brain damage
Takeuchi K, Shimizu K. Hypoplasia of the bilateral internal carotid arteries. Brain Nerve. 1957;9:37–43.
Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol. 1969;20(3):288–299.

4. Moyamoya phenomenon
• Cerebral angiopathy regardless of its cause
Moyamoya disease (MMD)
• Isolated and primary moyamoya angiopathy, usually bilateral
Moyamoya syndromes (MMS)
• Moyamoya angiopathy associated with other neurological or extra-
neurological manifestations, with or without a well-known associated
inherited or acquired condition
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. The application of clinical genetics. 2015;8:49.

5.  More prevalent in East Asian country.
 Japan: prevalence of 3.16–10.5/100,000 & incidence of 0.35–1.13/100,000/year
 F>M
 Age of MMD onset follows a bimodal distribution with a first peak in childhood
between 5 and 10 years of age and a second peak during the fourth decade
 A familial history is noted in 10% to 15% of cases in Japan
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. The application of clinical genetics. 2015;8:49.

6. Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. The application of clinical genetics. 2015;8:49.

7. Bang OY, Fujimura M, Kim SK. The pathophysiology of moyamoya disease: an update. Journal of stroke. 2016 Jan;18(1):12.

8.  Adults present with transient or permanent cerebral infarction and intracranial
hemorrhage
 Children present mainly with ischemic events
 Ischemic manifestations, due to steno-occlusive lesions, are usually multiple and
recurrent.
 Intellectual disability
 Migraine-like headache
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. The application of clinical genetics. 2015;8:49.

9.  Angiography
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. The application of clinical genetics. 2015;8:49.
Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol. 1969;20(3):288–299.

10.  Cerebral hemodynamics measurement
 Transcranial Doppler ultrasonography
 Electroencephalography: “rebuild-up”  reappearance of high amplitude slow
waves after hyperventilation
 Genetic Testing
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. The application of clinical genetics. 2015;8:49.

11.  Due to the progressive nature of the disease, surgical treatment for MMD should be
considered for symptomatic patients
 For pediatric patients, early diagnosis and active intervention before irreversible
brain damage occurs are mandatory
 Surgical revascularization is an effective treatment modality for preventing both
ischemic and hemorrhagic stroke
Kim T, Oh CW, Bang JS, Kim JE, Cho WS. Moyamoya disease: treatment and outcomes. Journal of stroke. 2016 Jan;18(1):21.
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. The application of clinical genetics. 2015;8:49.

12.  Cerebral angiopathy
 Cerebral infarctions and hemorrhages
 Angiography: “puff of smoke”
 Surgical revascularization in symptomatic patients