Familial moyamoya disease

Abstract

Moyamoya disease (MMD) is an idiopathic angiopathy characterized progressive stenosis or occlusion of terminal portion of bilateral internal carotid artery and circle of Willis. Collateral vessels develop at the base of brain to compensate for the progressive stenosis. The slowly developed collaterals appear as puff of smoke in angiography which give name of disease in Japanese. Definite cases of MMD are diagnosed in patients with bilateral lesion whereas patients with unilateral lesion are diagnosed as probable cases. So-called quasi-MMD or moyamoya syndrome is the same condition combined with a disease such as atherosclerosis, meningitis, brain tumor, head trauma, irradiation to head, neurofibromatosis, or Down's syndrome. © 2010 Springer-Verlag Tokyo.