Familial occurrence of Moyamoya disease

There is extensive evidence that Moyamoya disease has a tendency for multifactorial inheritance, although the pathogenesis of Moyamoya disease is not clear. The authors report five cases showing familial occurrence of Moyamoya disease and analyse its clinical characteristics. In the past 15 years, we have encountered 68 cases of Moyamoya disease. Among these, 14 cases (10 females and four males, five family pedigrees, asymptomatic 1 case) of familial occurrence were observed. In this series, mother-to-child inheritance was observed in five cases, although there were no cases showing father-to-child inheritance. Ten patients were children with an initial onset of cerebral ischemia, at a mean age of 9.7 years. One mother was asymptomatic and two mothers had a past history of cerebral ischemia. Only one patient was a 37-year-old woman with clinical onset of intracerebral hemorrhage. There were no specific clinical characteristics in familial Moyamoya disease compared with those in sporadic Moyamoya disease.