ABSTRACT
Moyamoya disease is an occlusive cerebrovascular disease characterized by stenosis or occlusion of main cerebral arteries. The etiology of moyamoya disease is still unclear, but the frequent familial occurrence suggests that some genetic factors may contribute to its etiology. In Korea, though the moyamoya disease is not infrequent, its familial occurrence has not been reported yet. We report four female patients(in two families) of moyamoya disease with its familial occurrence. Two patients are siblings and the other two are mother and daughter. The ages of symptom onset were thirties in three patients and sixties in one patient. Three patients had intracerebral hemorrhage including intraventricular hemorrhage(recurrent in two). We got cerebral angiography in three patients and magnetic resonance angiography (MRA) in one patient. Full laboratory evaluations were done in three patients, including HLA typing in two patients(mother and daughter). All the patients did not have any hereditary disease or any other disease which are known to cause moyamoya-like changes. Considering the reported familial incidence in Japan, careful search for the family members would reveal much more familial cases in Korea also.