Familial Occurrence of Moyamoya Disease: 
Report of Four Patients in Two Families

J Korean Neurol Assoc > Volume 16(4); 1998 > Article

Journal of the Korean Neurological Association 1998;16(4): 563-568.

두 가족에서 발생한 가족성 모야모야병 환자 4례

구자성, 노재규 ? 박성호* ? 이한보* 이용석 ? 윤창호 ? 송치성** ? 송재우**

서울대학교병원 신경과 서울 시립 보라매 병원 신경과*, 방사선과**

Familial Occurrence of Moyamoya Disease: Report of Four Patients in Two Families

Seong Koo, M.D., Jae-Kyu Roh, M.D., Seong-Ho Park, M.D. *, Han-Bo Lee, M.D. *, Yong-Seok Lee, M.D., Chang-Ho Yun, M.D., Chi-Seong Song, M.D. **, Jae-Uoo Song, M.D. **

Department of Neurology, Seoul National University Hospital Department of Neurology* & Radiology**, Seoul Borame City Hospital

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.