Moyamoya syndrome
MIM.252350
Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia.
(The Japanese word moyamoya means ?something hazy like a puff of cigarette smoke, drifting in the air.?)
Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults.
ETiology
Locus MYMY1 at 3p (MIM.252350)
Locus MYMY2 at 17q25 (MIM.252350)
Synopsis
vascular occlusion
primary pulmonary hypertension (2234323)
cerebellar infarction
narrowing and occlusion of arteries by connective tissue
marked thickening and folding of the elastic lamina
Differentail diagnosis (multiple arterial stenoses)
fibromuscular dysplasia
Grange syndrome
References
Yamashita M, Tanaka K, Kishikawa T, Yokota K. Moyamoya disease associated with renovascular hypertension. Hum Pathol. 1984 Feb;15(2):191-3. PMID: 6698536