Abstract:

Moyamoya disease (MMD) is an enigmatic, chronic, and progressive occlusive cerebrovascular disorder characterized by the narrowing or occlusion of the terminal segments of the bilateral internal carotid arteries and their major branches. It is also marked by an abnormal network of neovascularization at the base of the skull. The onset of the disease exhibits ethnic and familial clustering, likely due to a combination of environmental and genetic factors. Research indicates that familial MMD (F-MMD) accounts for approximately 10% of all MMD cases, with the prevalence of F-MMD gradually increasing within the spectrum of MMD. This article reports two cases of siblings successively diagnosed with MMD, both of whom exhibited recurrent intracranial hemorrhages. One case additionally involved an aneurysm at the distal portion of the left anterior choroidal artery. The paper concludes with a brief discussion of the genetic characteristics of F-MMD.

Key words: Moyamoya disease, Familial, Hereditary factor, Brain ischemia, Intracranial hemorrhage